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.
rs752075665
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr18:49333768 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)A=0.000020 (5/251358, GnomAD_exome)A=0.000033 (4/121374, ExAC) (+ 3 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- DYM : Stop Gained
- 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 14710 | G=1.00000 | A=0.00000 |
| European | Sub | 9768 | G=1.0000 | A=0.0000 |
| African | Sub | 3332 | G=1.0000 | A=0.0000 |
| African Others | Sub | 114 | G=1.000 | A=0.000 |
| African American | Sub | 3218 | G=1.0000 | A=0.0000 |
| Asian | Sub | 146 | G=1.000 | A=0.000 |
| East Asian | Sub | 120 | G=1.000 | A=0.000 |
| Other Asian | Sub | 26 | G=1.00 | A=0.00 |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000 |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000 |
| South Asian | Sub | 104 | G=1.000 | A=0.000 |
| Other | Sub | 604 | G=1.000 | A=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 |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.999996 | A=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 251358 | G=0.999980 | A=0.000020 |
| gnomAD - Exomes | European | Sub | 135304 | G=0.999970 | A=0.000030 |
| gnomAD - Exomes | Asian | Sub | 49004 | G=0.99998 | A=0.00002 |
| gnomAD - Exomes | American | Sub | 34584 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 16256 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10080 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | Other | Sub | 6130 | G=1.0000 | A=0.0000 |
| ExAC | Global | Study-wide | 121374 | G=0.999967 | A=0.000033 |
| ExAC | Europe | Sub | 73352 | G=0.99996 | A=0.00004 |
| ExAC | Asian | Sub | 25154 | G=0.99996 | A=0.00004 |
| ExAC | American | Sub | 11554 | G=1.00000 | A=0.00000 |
| ExAC | African | Sub | 10406 | G=1.00000 | A=0.00000 |
| ExAC | Other | Sub | 908 | G=1.000 | A=0.000 |
| The PAGE Study | Global | Study-wide | 78694 | G=0.99999 | A=0.00001 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | G=1.00000 | A=0.00000 |
| The PAGE Study | Mexican | Sub | 10808 | G=1.00000 | A=0.00000 |
| The PAGE Study | Asian | Sub | 8316 | G=1.0000 | A=0.0000 |
| The PAGE Study | PuertoRican | Sub | 7918 | G=0.9999 | A=0.0001 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=1.0000 | A=0.0000 |
| The PAGE Study | Cuban | Sub | 4230 | G=1.0000 | A=0.0000 |
| The PAGE Study | Dominican | Sub | 3828 | G=1.0000 | A=0.0000 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=1.0000 | A=0.0000 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=1.0000 | A=0.0000 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=1.0000 | A=0.0000 |
| The PAGE Study | SouthAsian | Sub | 856 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Total | Global | 14710 | G=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9768 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 3332 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 604 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 146 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 104 | G=1.000 | A=0.000 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.998 | A=0.002 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 18 | NC_000018.10:g.49333768G>A |
| GRCh37.p13 chr 18 | NC_000018.9:g.46860138G>A |
| DYM RefSeqGene | NG_009239.2:g.131966C>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| DYM transcript variant 13 |
NM_001374432.1:c.495-1762… NM_001374432.1:c.495-1762C>T |
N/A | Intron Variant |
| DYM transcript variant 17 |
NM_001374436.1:c.495-1762… NM_001374436.1:c.495-1762C>T |
N/A | Intron Variant |
| DYM transcript variant 22 |
NM_001374441.1:c.194-4715… NM_001374441.1:c.194-47152C>T |
N/A | Intron Variant |
| DYM transcript variant 23 |
NM_001374442.1:c.194-4715… NM_001374442.1:c.194-47152C>T |
N/A | Intron Variant |
| DYM transcript variant 24 |
NM_001374443.1:c.194-4715… NM_001374443.1:c.194-47155C>T |
N/A | Intron Variant |
| DYM transcript variant 25 |
NM_001374444.1:c.194-4715… NM_001374444.1:c.194-47152C>T |
N/A | Intron Variant |
| DYM transcript variant 5 | NM_001353213.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 5 | NP_001340142.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 20 | NM_001374439.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 19 | NP_001361368.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 19 | NM_001374438.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 18 | NP_001361367.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 1 | NM_017653.6:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 1 | NP_060123.3:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 14 | NM_001374433.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 13 | NP_001361362.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 10 | NM_001374429.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 9 | NP_001361358.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 21 | NM_001374440.1:c.352C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 20 | NP_001361369.1:p.Arg118Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 2 | NM_001353210.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 2 | NP_001340139.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 8 | NM_001353216.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 8 | NP_001340145.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 11 | NM_001374430.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 10 | NP_001361359.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 16 | NM_001374435.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 15 | NP_001361364.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 18 | NM_001374437.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 17 | NP_001361366.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 6 | NM_001353214.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 6 | NP_001340143.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 3 | NM_001353211.3:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 3 | NP_001340140.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 4 | NM_001353212.3:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 4 | NP_001340141.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 9 | NM_001374428.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 6 | NP_001361357.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 12 | NM_001374431.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 11 | NP_001361360.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 7 | NM_001353215.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 7 | NP_001340144.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant 15 | NM_001374434.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform 14 | NP_001361363.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X1 | XM_011526036.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X1 | XP_011524338.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X2 | XM_011526037.2:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X2 | XP_011524339.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X3 | XM_011526038.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X3 | XP_011524340.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X4 | XM_017025795.2:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X4 | XP_016881284.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X5 | XM_011526039.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X5 | XP_011524341.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X6 | XM_011526041.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X6 | XP_011524343.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X7 | XM_011526042.3:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X7 | XP_011524344.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X8 | XM_047437553.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X8 | XP_047293509.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X9 | XM_047437554.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X9 | XP_047293510.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X10 | XM_047437555.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X10 | XP_047293511.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X11 | XM_047437556.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X11 | XP_047293512.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X12 | XM_047437557.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X12 | XP_047293513.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X13 | XM_047437558.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X13 | XP_047293514.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X14 | XM_047437559.1:c.577C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X14 | XP_047293515.1:p.Arg193Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X15 | XM_006722492.5:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X15 | XP_006722555.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
| DYM transcript variant X16 | XM_047437560.1:c.580C>T | R [CGA] > * [TGA] | Coding Sequence Variant |
| dymeclin isoform X16 | XP_047293516.1:p.Arg194Ter | R (Arg) > * (Ter) | Stop Gained |
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.
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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 18 | NC_000018.10:g.49333768= | NC_000018.10:g.49333768G>A |
| GRCh37.p13 chr 18 | NC_000018.9:g.46860138= | NC_000018.9:g.46860138G>A |
| DYM RefSeqGene | NG_009239.2:g.131966= | NG_009239.2:g.131966C>T |
| DYM transcript variant 1 | NM_017653.6:c.580= | NM_017653.6:c.580C>T |
| DYM transcript variant 1 | NM_017653.5:c.580= | NM_017653.5:c.580C>T |
| DYM transcript variant 1 | NM_017653.4:c.580= | NM_017653.4:c.580C>T |
| DYM transcript | NM_017653.3:c.580= | NM_017653.3:c.580C>T |
| DYM transcript variant 6 | NM_001353214.3:c.580= | NM_001353214.3:c.580C>T |
| DYM transcript variant 6 | NM_001353214.2:c.580= | NM_001353214.2:c.580C>T |
| DYM transcript variant 6 | NM_001353214.1:c.580= | NM_001353214.1:c.580C>T |
| DYM transcript variant 5 | NM_001353213.3:c.580= | NM_001353213.3:c.580C>T |
| DYM transcript variant 5 | NM_001353213.2:c.580= | NM_001353213.2:c.580C>T |
| DYM transcript variant 5 | NM_001353213.1:c.580= | NM_001353213.1:c.580C>T |
| DYM transcript variant 4 | NM_001353212.3:c.577= | NM_001353212.3:c.577C>T |
| DYM transcript variant 4 | NM_001353212.2:c.577= | NM_001353212.2:c.577C>T |
| DYM transcript variant 4 | NM_001353212.1:c.577= | NM_001353212.1:c.577C>T |
| DYM transcript variant 3 | NM_001353211.3:c.577= | NM_001353211.3:c.577C>T |
| DYM transcript variant 3 | NM_001353211.2:c.577= | NM_001353211.2:c.577C>T |
| DYM transcript variant 3 | NM_001353211.1:c.577= | NM_001353211.1:c.577C>T |
| DYM transcript variant 2 | NM_001353210.3:c.580= | NM_001353210.3:c.580C>T |
| DYM transcript variant 2 | NM_001353210.2:c.580= | NM_001353210.2:c.580C>T |
| DYM transcript variant 2 | NM_001353210.1:c.580= | NM_001353210.1:c.580C>T |
| DYM transcript variant 7 | NM_001353215.3:c.580= | NM_001353215.3:c.580C>T |
| DYM transcript variant 7 | NM_001353215.2:c.580= | NM_001353215.2:c.580C>T |
| DYM transcript variant 7 | NM_001353215.1:c.580= | NM_001353215.1:c.580C>T |
| DYM transcript variant 8 | NM_001353216.3:c.580= | NM_001353216.3:c.580C>T |
| DYM transcript variant 8 | NM_001353216.2:c.580= | NM_001353216.2:c.580C>T |
| DYM transcript variant 8 | NM_001353216.1:c.580= | NM_001353216.1:c.580C>T |
| DYM transcript variant 9 | NM_001374428.1:c.580= | NM_001374428.1:c.580C>T |
| DYM transcript variant 11 | NM_001374430.1:c.580= | NM_001374430.1:c.580C>T |
| DYM transcript variant 10 | NM_001374429.1:c.577= | NM_001374429.1:c.577C>T |
| DYM transcript variant 14 | NM_001374433.1:c.580= | NM_001374433.1:c.580C>T |
| DYM transcript variant 12 | NM_001374431.1:c.580= | NM_001374431.1:c.580C>T |
| DYM transcript variant 15 | NM_001374434.1:c.580= | NM_001374434.1:c.580C>T |
| DYM transcript variant 16 | NM_001374435.1:c.580= | NM_001374435.1:c.580C>T |
| DYM transcript variant 18 | NM_001374437.1:c.580= | NM_001374437.1:c.580C>T |
| DYM transcript variant 19 | NM_001374438.1:c.580= | NM_001374438.1:c.580C>T |
| DYM transcript variant 20 | NM_001374439.1:c.577= | NM_001374439.1:c.577C>T |
| DYM transcript variant 21 | NM_001374440.1:c.352= | NM_001374440.1:c.352C>T |
| DYM transcript variant X15 | XM_006722492.5:c.580= | XM_006722492.5:c.580C>T |
| DYM transcript variant X14 | XM_006722492.4:c.580= | XM_006722492.4:c.580C>T |
| DYM transcript variant X18 | XM_006722492.3:c.580= | XM_006722492.3:c.580C>T |
| DYM transcript variant X12 | XM_006722492.2:c.580= | XM_006722492.2:c.580C>T |
| DYM transcript variant X8 | XM_006722492.1:c.580= | XM_006722492.1:c.580C>T |
| DYM transcript variant X1 | XM_011526036.3:c.580= | XM_011526036.3:c.580C>T |
| DYM transcript variant X1 | XM_011526036.2:c.580= | XM_011526036.2:c.580C>T |
| DYM transcript variant X1 | XM_011526036.1:c.580= | XM_011526036.1:c.580C>T |
| DYM transcript variant X3 | XM_011526038.3:c.580= | XM_011526038.3:c.580C>T |
| DYM transcript variant X3 | XM_011526038.2:c.580= | XM_011526038.2:c.580C>T |
| DYM transcript variant X3 | XM_011526038.1:c.580= | XM_011526038.1:c.580C>T |
| DYM transcript variant X6 | XM_011526041.3:c.580= | XM_011526041.3:c.580C>T |
| DYM transcript variant X8 | XM_011526041.2:c.580= | XM_011526041.2:c.580C>T |
| DYM transcript variant X8 | XM_011526041.1:c.580= | XM_011526041.1:c.580C>T |
| DYM transcript variant X7 | XM_011526042.3:c.580= | XM_011526042.3:c.580C>T |
| DYM transcript variant X9 | XM_011526042.2:c.580= | XM_011526042.2:c.580C>T |
| DYM transcript variant X9 | XM_011526042.1:c.580= | XM_011526042.1:c.580C>T |
| DYM transcript variant X5 | XM_011526039.3:c.580= | XM_011526039.3:c.580C>T |
| DYM transcript variant X5 | XM_011526039.2:c.580= | XM_011526039.2:c.580C>T |
| DYM transcript variant X5 | XM_011526039.1:c.580= | XM_011526039.1:c.580C>T |
| DYM transcript variant X2 | XM_011526037.2:c.577= | XM_011526037.2:c.577C>T |
| DYM transcript variant X2 | XM_011526037.1:c.577= | XM_011526037.1:c.577C>T |
| DYM transcript variant X4 | XM_017025795.2:c.577= | XM_017025795.2:c.577C>T |
| DYM transcript variant X4 | XM_017025795.1:c.577= | XM_017025795.1:c.577C>T |
| DYM transcript variant X10 | XM_047437555.1:c.580= | XM_047437555.1:c.580C>T |
| DYM transcript variant X9 | XM_047437554.1:c.577= | XM_047437554.1:c.577C>T |
| DYM transcript variant X8 | XM_047437553.1:c.577= | XM_047437553.1:c.577C>T |
| DYM transcript variant X13 | XM_047437558.1:c.580= | XM_047437558.1:c.580C>T |
| DYM transcript variant X14 | XM_047437559.1:c.577= | XM_047437559.1:c.577C>T |
| DYM transcript variant X11 | XM_047437556.1:c.577= | XM_047437556.1:c.577C>T |
| DYM transcript variant X16 | XM_047437560.1:c.580= | XM_047437560.1:c.580C>T |
| DYM transcript variant X12 | XM_047437557.1:c.580= | XM_047437557.1:c.580C>T |
| dymeclin isoform 1 | NP_060123.3:p.Arg194= | NP_060123.3:p.Arg194Ter |
| dymeclin isoform 6 | NP_001340143.1:p.Arg194= | NP_001340143.1:p.Arg194Ter |
| dymeclin isoform 5 | NP_001340142.1:p.Arg194= | NP_001340142.1:p.Arg194Ter |
| dymeclin isoform 4 | NP_001340141.1:p.Arg193= | NP_001340141.1:p.Arg193Ter |
| dymeclin isoform 3 | NP_001340140.1:p.Arg193= | NP_001340140.1:p.Arg193Ter |
| dymeclin isoform 2 | NP_001340139.1:p.Arg194= | NP_001340139.1:p.Arg194Ter |
| dymeclin isoform 7 | NP_001340144.1:p.Arg194= | NP_001340144.1:p.Arg194Ter |
| dymeclin isoform 8 | NP_001340145.1:p.Arg194= | NP_001340145.1:p.Arg194Ter |
| dymeclin isoform 6 | NP_001361357.1:p.Arg194= | NP_001361357.1:p.Arg194Ter |
| dymeclin isoform 10 | NP_001361359.1:p.Arg194= | NP_001361359.1:p.Arg194Ter |
| dymeclin isoform 9 | NP_001361358.1:p.Arg193= | NP_001361358.1:p.Arg193Ter |
| dymeclin isoform 13 | NP_001361362.1:p.Arg194= | NP_001361362.1:p.Arg194Ter |
| dymeclin isoform 11 | NP_001361360.1:p.Arg194= | NP_001361360.1:p.Arg194Ter |
| dymeclin isoform 14 | NP_001361363.1:p.Arg194= | NP_001361363.1:p.Arg194Ter |
| dymeclin isoform 15 | NP_001361364.1:p.Arg194= | NP_001361364.1:p.Arg194Ter |
| dymeclin isoform 17 | NP_001361366.1:p.Arg194= | NP_001361366.1:p.Arg194Ter |
| dymeclin isoform 18 | NP_001361367.1:p.Arg194= | NP_001361367.1:p.Arg194Ter |
| dymeclin isoform 19 | NP_001361368.1:p.Arg193= | NP_001361368.1:p.Arg193Ter |
| dymeclin isoform 20 | NP_001361369.1:p.Arg118= | NP_001361369.1:p.Arg118Ter |
| dymeclin isoform X15 | XP_006722555.1:p.Arg194= | XP_006722555.1:p.Arg194Ter |
| dymeclin isoform X1 | XP_011524338.1:p.Arg194= | XP_011524338.1:p.Arg194Ter |
| dymeclin isoform X3 | XP_011524340.1:p.Arg194= | XP_011524340.1:p.Arg194Ter |
| dymeclin isoform X6 | XP_011524343.1:p.Arg194= | XP_011524343.1:p.Arg194Ter |
| dymeclin isoform X7 | XP_011524344.1:p.Arg194= | XP_011524344.1:p.Arg194Ter |
| dymeclin isoform X5 | XP_011524341.1:p.Arg194= | XP_011524341.1:p.Arg194Ter |
| dymeclin isoform X2 | XP_011524339.1:p.Arg193= | XP_011524339.1:p.Arg193Ter |
| dymeclin isoform X4 | XP_016881284.1:p.Arg193= | XP_016881284.1:p.Arg193Ter |
| dymeclin isoform X10 | XP_047293511.1:p.Arg194= | XP_047293511.1:p.Arg194Ter |
| dymeclin isoform X9 | XP_047293510.1:p.Arg193= | XP_047293510.1:p.Arg193Ter |
| dymeclin isoform X8 | XP_047293509.1:p.Arg193= | XP_047293509.1:p.Arg193Ter |
| dymeclin isoform X13 | XP_047293514.1:p.Arg194= | XP_047293514.1:p.Arg194Ter |
| dymeclin isoform X14 | XP_047293515.1:p.Arg193= | XP_047293515.1:p.Arg193Ter |
| dymeclin isoform X11 | XP_047293512.1:p.Arg193= | XP_047293512.1:p.Arg193Ter |
| dymeclin isoform X16 | XP_047293516.1:p.Arg194= | XP_047293516.1:p.Arg194Ter |
| dymeclin isoform X12 | XP_047293513.1:p.Arg194= | XP_047293513.1:p.Arg194Ter |
| DYM transcript variant 13 | NM_001374432.1:c.495-1762= | NM_001374432.1:c.495-1762C>T |
| DYM transcript variant 17 | NM_001374436.1:c.495-1762= | NM_001374436.1:c.495-1762C>T |
| DYM transcript variant 22 | NM_001374441.1:c.194-47152= | NM_001374441.1:c.194-47152C>T |
| DYM transcript variant 23 | NM_001374442.1:c.194-47152= | NM_001374442.1:c.194-47152C>T |
| DYM transcript variant 24 | NM_001374443.1:c.194-47155= | NM_001374443.1:c.194-47155C>T |
| DYM transcript variant 25 | NM_001374444.1:c.194-47152= | NM_001374444.1:c.194-47152C>T |
| DYM transcript variant X4 | XM_005258291.1:c.194-47152= | XM_005258291.1:c.194-47152C>T |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | EVA_EXAC | ss1693147132 | Apr 01, 2015 (144) |
| 2 | ILLUMINA | ss1959805046 | Feb 12, 2016 (147) |
| 3 | GNOMAD | ss2743292621 | Nov 08, 2017 (151) |
| 4 | ILLUMINA | ss3021844361 | Nov 08, 2017 (151) |
| 5 | ILLUMINA | ss3652266352 | Oct 12, 2018 (152) |
| 6 | ILLUMINA | ss3725677718 | Jul 13, 2019 (153) |
| 7 | ACPOP | ss3742550695 | Jul 13, 2019 (153) |
| 8 | PAGE_CC | ss3771972456 | Jul 13, 2019 (153) |
| 9 | TOPMED | ss5057100603 | Apr 27, 2021 (155) |
| 10 | EVA | ss5979527995 | Oct 16, 2022 (156) |
| 11 | ExAC | NC_000018.9 - 46860138 | Oct 12, 2018 (152) |
| 12 | gnomAD - Exomes | NC_000018.9 - 46860138 | Jul 13, 2019 (153) |
| 13 | Northern Sweden | NC_000018.9 - 46860138 | Jul 13, 2019 (153) |
| 14 | The PAGE Study | NC_000018.10 - 49333768 | Jul 13, 2019 (153) |
| 15 | TopMed | NC_000018.10 - 49333768 | Apr 27, 2021 (155) |
| 16 | ALFA | NC_000018.10 - 49333768 | Apr 27, 2021 (155) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 3618705, 12604745, 15835560, ss1693147132, ss1959805046, ss2743292621, ss3021844361, ss3652266352, ss3742550695, ss5979527995 | NC_000018.9:46860137:G:A | NC_000018.10:49333767:G:A | (self) |
| 1193925, 272646266, 11590937625, ss3725677718, ss3771972456, ss5057100603 | NC_000018.10:49333767:G:A | NC_000018.10:49333767:G:A | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
No publications for rs752075665
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.