dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs752794820
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr15:24977889 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000009 (1/111980, ExAC)G=0.00000 (0/14050, ALFA)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
SNRPN : Missense VariantSNHG14 : Non Coding Transcript VariantSNURF : 3 Prime UTR Variant
- Publications
- 0 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14050 | C=1.00000 | G=0.00000 |
| European | Sub | 9690 | C=1.0000 | G=0.0000 |
| African | Sub | 2898 | C=1.0000 | G=0.0000 |
| African Others | Sub | 114 | C=1.000 | G=0.000 |
| African American | Sub | 2784 | C=1.0000 | G=0.0000 |
| Asian | Sub | 112 | C=1.000 | G=0.000 |
| East Asian | Sub | 86 | C=1.00 | G=0.00 |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 |
| Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| South Asian | Sub | 98 | C=1.00 | G=0.00 |
| Other | Sub | 496 | C=1.000 | G=0.000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| ExAC | Global | Study-wide | 111980 | C=0.999991 | G=0.000009 |
| ExAC | Europe | Sub | 69232 | C=1.00000 | G=0.00000 |
| ExAC | Asian | Sub | 21676 | C=0.99995 | G=0.00005 |
| ExAC | American | Sub | 11008 | C=1.00000 | G=0.00000 |
| ExAC | African | Sub | 9246 | C=1.0000 | G=0.0000 |
| ExAC | Other | Sub | 818 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=1.00000 | G=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=1.00 | G=0.00 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.24977889C>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.25223036C>G |
| PWSAS genomic region | NG_002690.1:g.196980C>G |
| SNRPN-SNURF RefSeqGene | NG_012958.1:g.159243C>G |
| PWARSN RefSeqGene | NG_042862.1:g.896C>G |
Gene: SNURF, SNRPN upstream open reading frame
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SNURF transcript variant 1 | NM_005678.5:c.*720= | N/A | 3 Prime UTR Variant |
| SNURF transcript variant 3 | NM_001394334.1:c. | N/A | Genic Downstream Transcript Variant |
| SNURF transcript variant 2 | NM_022804.3:c. | N/A | Genic Downstream Transcript Variant |
Gene: SNRPN, small nuclear ribonucleoprotein polypeptide N
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SNRPN transcript variant 4 | NM_022807.5:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073718.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 25 | NM_001378257.1:c.508C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001365186.1:p.Pro170Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 12 | NM_001349460.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336389.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 13 | NM_001349461.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336390.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 16 | NM_001349464.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336393.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 7 | NM_001349455.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336384.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 21 | NM_001378253.1:c.544C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365182.1:p.Pro182Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 14 | NM_001349462.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336391.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 17 | NM_001349465.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336394.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 11 | NM_001349459.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336388.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 23 | NM_001378255.1:c.544C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365184.1:p.Pro182Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 24 | NM_001378256.1:c.508C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001365185.1:p.Pro170Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 10 | NM_001349458.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336387.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 5 | NM_022808.5:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073719.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 2 | NM_022805.5:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073716.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 9 | NM_001349457.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336386.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 6 | NM_001349454.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336383.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 8 | NM_001349456.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336385.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 22 | NM_001378254.1:c.544C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365183.1:p.Pro182Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 1 | NM_003097.6:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_003088.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 15 | NM_001349463.2:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336392.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 3 | NM_022806.5:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073717.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 20 | NM_001378252.1:c.544C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365181.1:p.Pro182Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 19 | NM_001378251.1:c.544C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365180.1:p.Pro182Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 18 | NM_001378249.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001365178.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 29 | NM_001400637.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387566.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 49 | NM_001400691.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387620.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 58 | NM_001400702.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387631.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 97 | NM_001400746.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387675.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 47 | NM_001400689.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387618.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 76 | NM_001400725.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387654.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 39 | NM_001400650.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387579.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 75 | NM_001400724.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387653.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 95 | NM_001400744.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387673.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 71 | NM_001400720.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387649.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 44 | NM_001400686.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387615.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 67 | NM_001400716.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387645.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 87 | NM_001400736.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387665.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 102 | NM_001400755.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387684.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 80 | NM_001400729.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387658.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 43 | NM_001400685.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387614.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 79 | NM_001400728.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387657.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 48 | NM_001400690.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387619.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 78 | NM_001400727.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387656.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 82 | NM_001400731.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387660.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 86 | NM_001400735.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387664.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 63 | NM_001400710.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387639.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 112 | NM_001400768.1:c.268C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform e | NP_001387697.1:p.Pro90Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 106 | NM_001400759.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387688.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 52 | NM_001400694.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387623.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 99 | NM_001400748.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387677.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 27 | NM_001400635.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387564.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 30 | NM_001400638.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387567.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 31 | NM_001400639.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387568.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 66 | NM_001400715.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387644.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 98 | NM_001400747.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387676.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 107 | NM_001400762.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387691.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 53 | NM_001400695.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387624.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 83 | NM_001400732.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387661.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 74 | NM_001400723.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387652.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 91 | NM_001400740.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387669.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 81 | NM_001400730.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387659.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 68 | NM_001400717.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387646.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 46 | NM_001400688.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387617.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 41 | NM_001400683.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387612.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 54 | NM_001400696.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387625.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 42 | NM_001400684.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387613.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 59 | NM_001400703.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387632.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 84 | NM_001400733.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387662.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 61 | NM_001400706.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387635.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 65 | NM_001400713.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387642.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 38 | NM_001400649.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387578.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 64 | NM_001400712.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387641.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 94 | NM_001400743.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387672.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 111 | NM_001400767.1:c.508C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001387696.1:p.Pro170Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 70 | NM_001400719.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387648.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 51 | NM_001400693.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387622.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 62 | NM_001400708.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387637.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 90 | NM_001400739.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387668.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 108 | NM_001400763.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387692.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 105 | NM_001400758.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387687.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 103 | NM_001400756.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387685.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 50 | NM_001400692.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387621.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 72 | NM_001400721.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387650.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 26 | NM_001400634.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387563.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 101 | NM_001400754.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387683.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 77 | NM_001400726.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387655.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 92 | NM_001400741.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387670.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 40 | NM_001400652.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387581.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 34 | NM_001400643.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387572.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 85 | NM_001400734.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387663.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 104 | NM_001400757.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387686.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 69 | NM_001400718.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387647.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 110 | NM_001400765.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform d | NP_001387694.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 56 | NM_001400698.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387627.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 36 | NM_001400646.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387575.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 93 | NM_001400742.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387671.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 73 | NM_001400722.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387651.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 28 | NM_001400636.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387565.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 37 | NM_001400647.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387576.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 88 | NM_001400737.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387666.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 57 | NM_001400701.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387630.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 96 | NM_001400745.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387674.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 109 | NM_001400764.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform d | NP_001387693.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 32 | NM_001400640.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387569.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 100 | NM_001400753.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387682.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 35 | NM_001400644.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387573.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 45 | NM_001400687.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387616.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 60 | NM_001400704.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387633.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 55 | NM_001400697.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387626.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 89 | NM_001400738.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387667.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
| SNRPN transcript variant 33 | NM_001400641.1:c.532C>G | P [CCC] > A [GCC] | Coding Sequence Variant |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387570.1:p.Pro178Ala | P (Pro) > A (Ala) | Missense Variant |
Gene: SNHG14, small nucleolar RNA host gene 14
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SNHG14 transcript | NR_146177.1:n.1434C>G | N/A | Non Coding Transcript Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | G |
|---|---|---|
| GRCh38.p14 chr 15 | NC_000015.10:g.24977889= | NC_000015.10:g.24977889C>G |
| GRCh37.p13 chr 15 | NC_000015.9:g.25223036= | NC_000015.9:g.25223036C>G |
| PWSAS genomic region | NG_002690.1:g.196980= | NG_002690.1:g.196980C>G |
| SNRPN-SNURF RefSeqGene | NG_012958.1:g.159243= | NG_012958.1:g.159243C>G |
| SNRPN transcript variant 1 | NM_003097.6:c.532= | NM_003097.6:c.532C>G |
| SNRPN transcript variant 1 | NM_003097.5:c.532= | NM_003097.5:c.532C>G |
| SNRPN transcript variant 1 | NM_003097.4:c.532= | NM_003097.4:c.532C>G |
| SNRPN transcript variant 1 | NM_003097.3:c.532= | NM_003097.3:c.532C>G |
| SNRPN transcript variant 4 | NM_022807.5:c.532= | NM_022807.5:c.532C>G |
| SNRPN transcript variant 4 | NM_022807.4:c.532= | NM_022807.4:c.532C>G |
| SNRPN transcript variant 4 | NM_022807.3:c.532= | NM_022807.3:c.532C>G |
| SNRPN transcript variant 4 | NM_022807.2:c.532= | NM_022807.2:c.532C>G |
| SNRPN transcript variant 5 | NM_022808.5:c.532= | NM_022808.5:c.532C>G |
| SNRPN transcript variant 5 | NM_022808.4:c.532= | NM_022808.4:c.532C>G |
| SNRPN transcript variant 5 | NM_022808.3:c.532= | NM_022808.3:c.532C>G |
| SNRPN transcript variant 5 | NM_022808.2:c.532= | NM_022808.2:c.532C>G |
| SNRPN transcript variant 3 | NM_022806.5:c.532= | NM_022806.5:c.532C>G |
| SNRPN transcript variant 3 | NM_022806.4:c.532= | NM_022806.4:c.532C>G |
| SNRPN transcript variant 3 | NM_022806.3:c.532= | NM_022806.3:c.532C>G |
| SNRPN transcript variant 3 | NM_022806.2:c.532= | NM_022806.2:c.532C>G |
| SNRPN transcript variant 2 | NM_022805.5:c.532= | NM_022805.5:c.532C>G |
| SNRPN transcript variant 2 | NM_022805.4:c.532= | NM_022805.4:c.532C>G |
| SNRPN transcript variant 2 | NM_022805.3:c.532= | NM_022805.3:c.532C>G |
| SNRPN transcript variant 2 | NM_022805.2:c.532= | NM_022805.2:c.532C>G |
| SNURF transcript variant 1 | NM_005678.5:c.*720= | NM_005678.5:c.*720C>G |
| SNURF transcript variant 1 | NM_005678.4:c.*720= | NM_005678.4:c.*720C>G |
| SNURF transcript variant 1 | NM_005678.3:c.*720= | NM_005678.3:c.*720C>G |
| SNRPN transcript variant 12 | NM_001349460.2:c.532= | NM_001349460.2:c.532C>G |
| SNRPN transcript variant 12 | NM_001349460.1:c.532= | NM_001349460.1:c.532C>G |
| SNRPN transcript variant 9 | NM_001349457.2:c.532= | NM_001349457.2:c.532C>G |
| SNRPN transcript variant 9 | NM_001349457.1:c.532= | NM_001349457.1:c.532C>G |
| SNRPN transcript variant 6 | NM_001349454.2:c.532= | NM_001349454.2:c.532C>G |
| SNRPN transcript variant 6 | NM_001349454.1:c.532= | NM_001349454.1:c.532C>G |
| SNRPN transcript variant 7 | NM_001349455.2:c.532= | NM_001349455.2:c.532C>G |
| SNRPN transcript variant 7 | NM_001349455.1:c.532= | NM_001349455.1:c.532C>G |
| SNRPN transcript variant 14 | NM_001349462.2:c.532= | NM_001349462.2:c.532C>G |
| SNRPN transcript variant 14 | NM_001349462.1:c.532= | NM_001349462.1:c.532C>G |
| SNRPN transcript variant 10 | NM_001349458.2:c.532= | NM_001349458.2:c.532C>G |
| SNRPN transcript variant 10 | NM_001349458.1:c.532= | NM_001349458.1:c.532C>G |
| SNRPN transcript variant 17 | NM_001349465.2:c.532= | NM_001349465.2:c.532C>G |
| SNRPN transcript variant 17 | NM_001349465.1:c.532= | NM_001349465.1:c.532C>G |
| SNRPN transcript variant 8 | NM_001349456.2:c.532= | NM_001349456.2:c.532C>G |
| SNRPN transcript variant 8 | NM_001349456.1:c.532= | NM_001349456.1:c.532C>G |
| SNRPN transcript variant 13 | NM_001349461.2:c.532= | NM_001349461.2:c.532C>G |
| SNRPN transcript variant 13 | NM_001349461.1:c.532= | NM_001349461.1:c.532C>G |
| SNRPN transcript variant 11 | NM_001349459.2:c.532= | NM_001349459.2:c.532C>G |
| SNRPN transcript variant 11 | NM_001349459.1:c.532= | NM_001349459.1:c.532C>G |
| SNRPN transcript variant 16 | NM_001349464.2:c.532= | NM_001349464.2:c.532C>G |
| SNRPN transcript variant 16 | NM_001349464.1:c.532= | NM_001349464.1:c.532C>G |
| SNRPN transcript variant 15 | NM_001349463.2:c.532= | NM_001349463.2:c.532C>G |
| SNRPN transcript variant 15 | NM_001349463.1:c.532= | NM_001349463.1:c.532C>G |
| SNRPN transcript variant 89 | NM_001400738.1:c.532= | NM_001400738.1:c.532C>G |
| SNRPN transcript variant 64 | NM_001400712.1:c.532= | NM_001400712.1:c.532C>G |
| SNRPN transcript variant 96 | NM_001400745.1:c.532= | NM_001400745.1:c.532C>G |
| SNRPN transcript variant 32 | NM_001400640.1:c.532= | NM_001400640.1:c.532C>G |
| SNRPN transcript variant 91 | NM_001400740.1:c.532= | NM_001400740.1:c.532C>G |
| SNRPN transcript variant 48 | NM_001400690.1:c.532= | NM_001400690.1:c.532C>G |
| SNRPN transcript variant 90 | NM_001400739.1:c.532= | NM_001400739.1:c.532C>G |
| SNRPN transcript variant 105 | NM_001400758.1:c.532= | NM_001400758.1:c.532C>G |
| SNRPN transcript variant 40 | NM_001400652.1:c.532= | NM_001400652.1:c.532C>G |
| SNRPN transcript variant 33 | NM_001400641.1:c.532= | NM_001400641.1:c.532C>G |
| SNRPN transcript variant 57 | NM_001400701.1:c.532= | NM_001400701.1:c.532C>G |
| SNRPN transcript variant 19 | NM_001378251.1:c.544= | NM_001378251.1:c.544C>G |
| SNRPN transcript variant 59 | NM_001400703.1:c.532= | NM_001400703.1:c.532C>G |
| SNRPN transcript variant 44 | NM_001400686.1:c.532= | NM_001400686.1:c.532C>G |
| SNRPN transcript variant 60 | NM_001400704.1:c.532= | NM_001400704.1:c.532C>G |
| SNRPN transcript variant 51 | NM_001400693.1:c.532= | NM_001400693.1:c.532C>G |
| SNRPN transcript variant 100 | NM_001400753.1:c.532= | NM_001400753.1:c.532C>G |
| SNRPN transcript variant 34 | NM_001400643.1:c.532= | NM_001400643.1:c.532C>G |
| SNRPN transcript variant 27 | NM_001400635.1:c.532= | NM_001400635.1:c.532C>G |
| SNRPN transcript variant 73 | NM_001400722.1:c.532= | NM_001400722.1:c.532C>G |
| SNRPN transcript variant 29 | NM_001400637.1:c.532= | NM_001400637.1:c.532C>G |
| SNRPN transcript variant 63 | NM_001400710.1:c.532= | NM_001400710.1:c.532C>G |
| SNRPN transcript variant 28 | NM_001400636.1:c.532= | NM_001400636.1:c.532C>G |
| SNRPN transcript variant 36 | NM_001400646.1:c.532= | NM_001400646.1:c.532C>G |
| SNRPN transcript variant 93 | NM_001400742.1:c.532= | NM_001400742.1:c.532C>G |
| SNRPN transcript variant 62 | NM_001400708.1:c.532= | NM_001400708.1:c.532C>G |
| SNRPN transcript variant 38 | NM_001400649.1:c.532= | NM_001400649.1:c.532C>G |
| SNRPN transcript variant 37 | NM_001400647.1:c.532= | NM_001400647.1:c.532C>G |
| SNRPN transcript variant 102 | NM_001400755.1:c.532= | NM_001400755.1:c.532C>G |
| SNRPN transcript variant 50 | NM_001400692.1:c.532= | NM_001400692.1:c.532C>G |
| SNRPN transcript variant 104 | NM_001400757.1:c.532= | NM_001400757.1:c.532C>G |
| SNRPN transcript variant 94 | NM_001400743.1:c.532= | NM_001400743.1:c.532C>G |
| SNRPN transcript variant 35 | NM_001400644.1:c.532= | NM_001400644.1:c.532C>G |
| SNRPN transcript variant 41 | NM_001400683.1:c.532= | NM_001400683.1:c.532C>G |
| SNRPN transcript variant 92 | NM_001400741.1:c.532= | NM_001400741.1:c.532C>G |
| SNRPN transcript variant 42 | NM_001400684.1:c.532= | NM_001400684.1:c.532C>G |
| SNRPN transcript variant 47 | NM_001400689.1:c.532= | NM_001400689.1:c.532C>G |
| SNRPN transcript variant 53 | NM_001400695.1:c.532= | NM_001400695.1:c.532C>G |
| SNRPN transcript variant 45 | NM_001400687.1:c.532= | NM_001400687.1:c.532C>G |
| SNRPN transcript variant 30 | NM_001400638.1:c.532= | NM_001400638.1:c.532C>G |
| SNRPN transcript variant 58 | NM_001400702.1:c.532= | NM_001400702.1:c.532C>G |
| SNRPN transcript variant 99 | NM_001400748.1:c.532= | NM_001400748.1:c.532C>G |
| SNRPN transcript variant 65 | NM_001400713.1:c.532= | NM_001400713.1:c.532C>G |
| SNRPN transcript variant 22 | NM_001378254.1:c.544= | NM_001378254.1:c.544C>G |
| SNRPN transcript variant 52 | NM_001400694.1:c.532= | NM_001400694.1:c.532C>G |
| SNRPN transcript variant 54 | NM_001400696.1:c.532= | NM_001400696.1:c.532C>G |
| SNRPN transcript variant 43 | NM_001400685.1:c.532= | NM_001400685.1:c.532C>G |
| SNRPN transcript variant 75 | NM_001400724.1:c.532= | NM_001400724.1:c.532C>G |
| SNRPN transcript variant 31 | NM_001400639.1:c.532= | NM_001400639.1:c.532C>G |
| SNRPN transcript variant 61 | NM_001400706.1:c.532= | NM_001400706.1:c.532C>G |
| SNRPN transcript variant 66 | NM_001400715.1:c.532= | NM_001400715.1:c.532C>G |
| SNRPN transcript variant 46 | NM_001400688.1:c.532= | NM_001400688.1:c.532C>G |
| SNRPN transcript variant 20 | NM_001378252.1:c.544= | NM_001378252.1:c.544C>G |
| SNRPN transcript variant 69 | NM_001400718.1:c.532= | NM_001400718.1:c.532C>G |
| SNRPN transcript variant 67 | NM_001400716.1:c.532= | NM_001400716.1:c.532C>G |
| SNRPN transcript variant 98 | NM_001400747.1:c.532= | NM_001400747.1:c.532C>G |
| SNRPN transcript variant 56 | NM_001400698.1:c.532= | NM_001400698.1:c.532C>G |
| SNRPN transcript variant 68 | NM_001400717.1:c.532= | NM_001400717.1:c.532C>G |
| SNRPN transcript variant 97 | NM_001400746.1:c.532= | NM_001400746.1:c.532C>G |
| SNRPN transcript variant 95 | NM_001400744.1:c.532= | NM_001400744.1:c.532C>G |
| SNRPN transcript variant 74 | NM_001400723.1:c.532= | NM_001400723.1:c.532C>G |
| SNRPN transcript variant 26 | NM_001400634.1:c.532= | NM_001400634.1:c.532C>G |
| SNRPN transcript variant 83 | NM_001400732.1:c.532= | NM_001400732.1:c.532C>G |
| SNRPN transcript variant 49 | NM_001400691.1:c.532= | NM_001400691.1:c.532C>G |
| SNRPN transcript variant 82 | NM_001400731.1:c.532= | NM_001400731.1:c.532C>G |
| SNRPN transcript variant 86 | NM_001400735.1:c.532= | NM_001400735.1:c.532C>G |
| SNRPN transcript variant 84 | NM_001400733.1:c.532= | NM_001400733.1:c.532C>G |
| SNRPN transcript variant 101 | NM_001400754.1:c.532= | NM_001400754.1:c.532C>G |
| SNRPN transcript variant 76 | NM_001400725.1:c.532= | NM_001400725.1:c.532C>G |
| SNRPN transcript variant 87 | NM_001400736.1:c.532= | NM_001400736.1:c.532C>G |
| SNRPN transcript variant 70 | NM_001400719.1:c.532= | NM_001400719.1:c.532C>G |
| SNRPN transcript variant 103 | NM_001400756.1:c.532= | NM_001400756.1:c.532C>G |
| SNRPN transcript variant 21 | NM_001378253.1:c.544= | NM_001378253.1:c.544C>G |
| SNRPN transcript variant 18 | NM_001378249.1:c.532= | NM_001378249.1:c.532C>G |
| SNRPN transcript variant 23 | NM_001378255.1:c.544= | NM_001378255.1:c.544C>G |
| SNRPN transcript variant 106 | NM_001400759.1:c.532= | NM_001400759.1:c.532C>G |
| SNRPN transcript variant 88 | NM_001400737.1:c.532= | NM_001400737.1:c.532C>G |
| SNRPN transcript variant 72 | NM_001400721.1:c.532= | NM_001400721.1:c.532C>G |
| SNRPN transcript variant 108 | NM_001400763.1:c.532= | NM_001400763.1:c.532C>G |
| SNRPN transcript variant 71 | NM_001400720.1:c.532= | NM_001400720.1:c.532C>G |
| SNRPN transcript variant 85 | NM_001400734.1:c.532= | NM_001400734.1:c.532C>G |
| SNRPN transcript variant 55 | NM_001400697.1:c.532= | NM_001400697.1:c.532C>G |
| SNRPN transcript variant 39 | NM_001400650.1:c.532= | NM_001400650.1:c.532C>G |
| SNRPN transcript variant 77 | NM_001400726.1:c.532= | NM_001400726.1:c.532C>G |
| SNRPN transcript variant 79 | NM_001400728.1:c.532= | NM_001400728.1:c.532C>G |
| SNRPN transcript variant 80 | NM_001400729.1:c.532= | NM_001400729.1:c.532C>G |
| SNRPN transcript variant 109 | NM_001400764.1:c.532= | NM_001400764.1:c.532C>G |
| SNRPN transcript variant 110 | NM_001400765.1:c.532= | NM_001400765.1:c.532C>G |
| SNRPN transcript variant 25 | NM_001378257.1:c.508= | NM_001378257.1:c.508C>G |
| SNRPN transcript variant 78 | NM_001400727.1:c.532= | NM_001400727.1:c.532C>G |
| SNRPN transcript variant 24 | NM_001378256.1:c.508= | NM_001378256.1:c.508C>G |
| SNRPN transcript variant 107 | NM_001400762.1:c.532= | NM_001400762.1:c.532C>G |
| SNRPN transcript variant 111 | NM_001400767.1:c.508= | NM_001400767.1:c.508C>G |
| SNRPN transcript variant 81 | NM_001400730.1:c.532= | NM_001400730.1:c.532C>G |
| SNRPN transcript variant 112 | NM_001400768.1:c.268= | NM_001400768.1:c.268C>G |
| PWARSN RefSeqGene | NG_042862.1:g.896= | NG_042862.1:g.896C>G |
| SNHG14 transcript | NR_146177.1:n.1434= | NR_146177.1:n.1434C>G |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_003088.1:p.Pro178= | NP_003088.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073718.1:p.Pro178= | NP_073718.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073719.1:p.Pro178= | NP_073719.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073717.1:p.Pro178= | NP_073717.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_073716.1:p.Pro178= | NP_073716.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336389.1:p.Pro178= | NP_001336389.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336386.1:p.Pro178= | NP_001336386.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336383.1:p.Pro178= | NP_001336383.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336384.1:p.Pro178= | NP_001336384.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336391.1:p.Pro178= | NP_001336391.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336387.1:p.Pro178= | NP_001336387.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336394.1:p.Pro178= | NP_001336394.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336385.1:p.Pro178= | NP_001336385.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336390.1:p.Pro178= | NP_001336390.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336388.1:p.Pro178= | NP_001336388.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336393.1:p.Pro178= | NP_001336393.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001336392.1:p.Pro178= | NP_001336392.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387667.1:p.Pro178= | NP_001387667.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387641.1:p.Pro178= | NP_001387641.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387674.1:p.Pro178= | NP_001387674.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387569.1:p.Pro178= | NP_001387569.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387669.1:p.Pro178= | NP_001387669.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387619.1:p.Pro178= | NP_001387619.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387668.1:p.Pro178= | NP_001387668.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387687.1:p.Pro178= | NP_001387687.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387581.1:p.Pro178= | NP_001387581.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387570.1:p.Pro178= | NP_001387570.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387630.1:p.Pro178= | NP_001387630.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365180.1:p.Pro182= | NP_001365180.1:p.Pro182Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387632.1:p.Pro178= | NP_001387632.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387615.1:p.Pro178= | NP_001387615.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387633.1:p.Pro178= | NP_001387633.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387622.1:p.Pro178= | NP_001387622.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387682.1:p.Pro178= | NP_001387682.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387572.1:p.Pro178= | NP_001387572.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387564.1:p.Pro178= | NP_001387564.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387651.1:p.Pro178= | NP_001387651.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387566.1:p.Pro178= | NP_001387566.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387639.1:p.Pro178= | NP_001387639.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387565.1:p.Pro178= | NP_001387565.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387575.1:p.Pro178= | NP_001387575.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387671.1:p.Pro178= | NP_001387671.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387637.1:p.Pro178= | NP_001387637.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387578.1:p.Pro178= | NP_001387578.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387576.1:p.Pro178= | NP_001387576.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387684.1:p.Pro178= | NP_001387684.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387621.1:p.Pro178= | NP_001387621.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387686.1:p.Pro178= | NP_001387686.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387672.1:p.Pro178= | NP_001387672.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387573.1:p.Pro178= | NP_001387573.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387612.1:p.Pro178= | NP_001387612.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387670.1:p.Pro178= | NP_001387670.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387613.1:p.Pro178= | NP_001387613.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387618.1:p.Pro178= | NP_001387618.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387624.1:p.Pro178= | NP_001387624.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387616.1:p.Pro178= | NP_001387616.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387567.1:p.Pro178= | NP_001387567.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387631.1:p.Pro178= | NP_001387631.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387677.1:p.Pro178= | NP_001387677.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387642.1:p.Pro178= | NP_001387642.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365183.1:p.Pro182= | NP_001365183.1:p.Pro182Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387623.1:p.Pro178= | NP_001387623.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387625.1:p.Pro178= | NP_001387625.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387614.1:p.Pro178= | NP_001387614.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387653.1:p.Pro178= | NP_001387653.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387568.1:p.Pro178= | NP_001387568.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387635.1:p.Pro178= | NP_001387635.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387644.1:p.Pro178= | NP_001387644.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387617.1:p.Pro178= | NP_001387617.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365181.1:p.Pro182= | NP_001365181.1:p.Pro182Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387647.1:p.Pro178= | NP_001387647.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387645.1:p.Pro178= | NP_001387645.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387676.1:p.Pro178= | NP_001387676.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387627.1:p.Pro178= | NP_001387627.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387646.1:p.Pro178= | NP_001387646.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387675.1:p.Pro178= | NP_001387675.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387673.1:p.Pro178= | NP_001387673.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387652.1:p.Pro178= | NP_001387652.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387563.1:p.Pro178= | NP_001387563.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387661.1:p.Pro178= | NP_001387661.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387620.1:p.Pro178= | NP_001387620.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387660.1:p.Pro178= | NP_001387660.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387664.1:p.Pro178= | NP_001387664.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387662.1:p.Pro178= | NP_001387662.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387683.1:p.Pro178= | NP_001387683.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387654.1:p.Pro178= | NP_001387654.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387665.1:p.Pro178= | NP_001387665.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387648.1:p.Pro178= | NP_001387648.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387685.1:p.Pro178= | NP_001387685.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365182.1:p.Pro182= | NP_001365182.1:p.Pro182Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001365178.1:p.Pro178= | NP_001365178.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform a | NP_001365184.1:p.Pro182= | NP_001365184.1:p.Pro182Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387688.1:p.Pro178= | NP_001387688.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387666.1:p.Pro178= | NP_001387666.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387650.1:p.Pro178= | NP_001387650.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387692.1:p.Pro178= | NP_001387692.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387649.1:p.Pro178= | NP_001387649.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387663.1:p.Pro178= | NP_001387663.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387626.1:p.Pro178= | NP_001387626.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387579.1:p.Pro178= | NP_001387579.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387655.1:p.Pro178= | NP_001387655.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387657.1:p.Pro178= | NP_001387657.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387658.1:p.Pro178= | NP_001387658.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform d | NP_001387693.1:p.Pro178= | NP_001387693.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform d | NP_001387694.1:p.Pro178= | NP_001387694.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001365186.1:p.Pro170= | NP_001365186.1:p.Pro170Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387656.1:p.Pro178= | NP_001387656.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001365185.1:p.Pro170= | NP_001365185.1:p.Pro170Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387691.1:p.Pro178= | NP_001387691.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform c | NP_001387696.1:p.Pro170= | NP_001387696.1:p.Pro170Ala |
| small nuclear ribonucleoprotein-associated protein N isoform b | NP_001387659.1:p.Pro178= | NP_001387659.1:p.Pro178Ala |
| small nuclear ribonucleoprotein-associated protein N isoform e | NP_001387697.1:p.Pro90= | NP_001387697.1:p.Pro90Ala |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
2 SubSNP,
2 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1691709843 | Apr 01, 2015 (144) |
| 2 | GNOMAD | ss2741055263 | Nov 08, 2017 (151) |
| 3 | ExAC | NC_000015.9 - 25223036 | Oct 12, 2018 (152) |
| 4 | ALFA | NC_000015.10 - 24977889 | Apr 27, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs752794820
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.