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.
rs78759061
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:179811812 (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=0.000052 (13/251460, GnomAD_exome)A=0.000021 (3/140214, GnomAD)A=0.000066 (8/121404, ExAC) (+ 2 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PEX5L : Synonymous 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 | G=1.00000 | A=0.00000 |
| European | Sub | 9690 | G=1.0000 | A=0.0000 |
| African | Sub | 2898 | G=1.0000 | A=0.0000 |
| African Others | Sub | 114 | G=1.000 | A=0.000 |
| African American | Sub | 2784 | G=1.0000 | A=0.0000 |
| Asian | Sub | 112 | G=1.000 | A=0.000 |
| East Asian | Sub | 86 | G=1.00 | A=0.00 |
| 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 | 98 | G=1.00 | A=0.00 |
| Other | Sub | 496 | 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 |
|---|---|---|---|---|---|
| gnomAD - Exomes | Global | Study-wide | 251460 | G=0.999948 | A=0.000052 |
| gnomAD - Exomes | European | Sub | 135388 | G=0.999978 | A=0.000022 |
| gnomAD - Exomes | Asian | Sub | 49008 | G=0.99980 | A=0.00020 |
| gnomAD - Exomes | American | Sub | 34588 | 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 | 6140 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140214 | G=0.999979 | A=0.000021 |
| gnomAD - Genomes | European | Sub | 75930 | G=0.99997 | A=0.00003 |
| gnomAD - Genomes | African | Sub | 42030 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | American | Sub | 13646 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3134 | G=0.9997 | A=0.0003 |
| gnomAD - Genomes | Other | Sub | 2150 | G=1.0000 | A=0.0000 |
| ExAC | Global | Study-wide | 121404 | G=0.999934 | A=0.000066 |
| ExAC | Europe | Sub | 73350 | G=0.99997 | A=0.00003 |
| ExAC | Asian | Sub | 25164 | G=0.99976 | A=0.00024 |
| ExAC | American | Sub | 11576 | 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 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | 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 | 496 | 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 | 112 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=0.00 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 616 | G=0.997 | A=0.003 |
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 3 | NC_000003.12:g.179811812G>A |
| GRCh37.p13 chr 3 | NC_000003.11:g.179529600G>A |
Gene: PEX5L, peroxisomal biogenesis factor 5 like
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PEX5L transcript variant 1 | NM_016559.3:c.1143C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 1 | NP_057643.1:p.Val381= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 22 | NM_001349399.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336328.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 21 | NM_001349398.2:c.876C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 18 | NP_001336327.1:p.Val292= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 11 | NM_001349388.2:c.1215C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 10 | NP_001336317.1:p.Val405= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 5 | NM_001256753.2:c.966C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 5 | NP_001243682.1:p.Val322= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 15 | NM_001349392.2:c.1110C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 14 | NP_001336321.1:p.Val370= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 8 | NM_001256756.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001243685.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 13 | NM_001349390.2:c.1203C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 12 | NP_001336319.1:p.Val401= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 23 | NM_001349401.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336330.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 14 | NM_001349391.2:c.1113C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 13 | NP_001336320.1:p.Val371= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 24 | NM_001349404.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336333.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 19 | NM_001349396.2:c.942C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 16 | NP_001336325.1:p.Val314= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 7 | NM_001256755.2:c.819C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 7 | NP_001243684.1:p.Val273= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 28 | NM_001349410.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336339.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 9 | NM_001349386.2:c.1308C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 9 | NP_001336315.1:p.Val436= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 16 | NM_001349393.2:c.1110C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 14 | NP_001336322.1:p.Val370= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 26 | NM_001349408.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336337.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 20 | NM_001349397.2:c.915C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 17 | NP_001336326.1:p.Val305= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 27 | NM_001349409.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336338.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 6 | NM_001256754.2:c.1014C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 6 | NP_001243683.1:p.Val338= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 25 | NM_001349406.2:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 8 | NP_001336335.1:p.Val189= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 18 | NM_001349395.2:c.1014C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 6 | NP_001336324.1:p.Val338= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 4 | NM_001256752.2:c.1038C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 4 | NP_001243681.1:p.Val346= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 10 | NM_001349387.2:c.1215C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 10 | NP_001336316.1:p.Val405= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 2 | NM_001256750.2:c.1137C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 2 | NP_001243679.1:p.Val379= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 3 | NM_001256751.2:c.1071C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 3 | NP_001243680.1:p.Val357= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 17 | NM_001349394.2:c.1020C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 15 | NP_001336323.1:p.Val340= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 12 | NM_001349389.2:c.1209C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform 11 | NP_001336318.1:p.Val403= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant 29 | NR_146167.2:n.1223C>T | N/A | Non Coding Transcript Variant |
| PEX5L transcript variant X1 | XM_024453590.2:c.1374C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X1 | XP_024309358.1:p.Val458= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X2 | XM_024453591.2:c.1281C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X2 | XP_024309359.1:p.Val427= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X3 | XM_024453592.2:c.1179C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X3 | XP_024309360.1:p.Val393= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X4 | XM_011512888.3:c.1053C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X4 | XP_011511190.1:p.Val351= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X5 | XM_024453593.2:c.1008C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X5 | XP_024309361.1:p.Val336= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X6 | XM_047448297.1:c.948C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X6 | XP_047304253.1:p.Val316= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X7 | XM_047448298.1:c.843C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X7 | XP_047304254.1:p.Val281= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X8 | XM_047448299.1:c.771C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X8 | XP_047304255.1:p.Val257= | V (Val) > V (Val) | Synonymous Variant |
| PEX5L transcript variant X9 | XM_011512891.3:c.567C>T | V [GTC] > V [GTT] | Coding Sequence Variant |
| PEX5-related protein isoform X9 | XP_011511193.1:p.Val189= | V (Val) > V (Val) | Synonymous 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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.179811812= | NC_000003.12:g.179811812G>A |
| GRCh37.p13 chr 3 | NC_000003.11:g.179529600= | NC_000003.11:g.179529600G>A |
| PEX5L transcript variant X9 | XM_011512891.3:c.567= | XM_011512891.3:c.567C>T |
| PEX5L transcript variant X6 | XM_011512891.2:c.567= | XM_011512891.2:c.567C>T |
| PEX5L transcript variant X11 | XM_011512891.1:c.567= | XM_011512891.1:c.567C>T |
| PEX5L transcript variant 1 | NM_016559.3:c.1143= | NM_016559.3:c.1143C>T |
| PEX5L transcript variant 1 | NM_016559.2:c.1143= | NM_016559.2:c.1143C>T |
| PEX5L transcript variant X4 | XM_011512888.3:c.1053= | XM_011512888.3:c.1053C>T |
| PEX5L transcript variant X4 | XM_011512888.2:c.1053= | XM_011512888.2:c.1053C>T |
| PEX5L transcript variant X7 | XM_011512888.1:c.1053= | XM_011512888.1:c.1053C>T |
| PEX5L transcript variant 11 | NM_001349388.2:c.1215= | NM_001349388.2:c.1215C>T |
| PEX5L transcript variant 11 | NM_001349388.1:c.1215= | NM_001349388.1:c.1215C>T |
| PEX5L transcript variant 15 | NM_001349392.2:c.1110= | NM_001349392.2:c.1110C>T |
| PEX5L transcript variant 15 | NM_001349392.1:c.1110= | NM_001349392.1:c.1110C>T |
| PEX5L transcript variant 20 | NM_001349397.2:c.915= | NM_001349397.2:c.915C>T |
| PEX5L transcript variant 20 | NM_001349397.1:c.915= | NM_001349397.1:c.915C>T |
| PEX5L transcript variant X1 | XM_024453590.2:c.1374= | XM_024453590.2:c.1374C>T |
| PEX5L transcript variant X1 | XM_024453590.1:c.1374= | XM_024453590.1:c.1374C>T |
| PEX5L transcript variant X2 | XM_024453591.2:c.1281= | XM_024453591.2:c.1281C>T |
| PEX5L transcript variant X2 | XM_024453591.1:c.1281= | XM_024453591.1:c.1281C>T |
| PEX5L transcript variant 12 | NM_001349389.2:c.1209= | NM_001349389.2:c.1209C>T |
| PEX5L transcript variant 12 | NM_001349389.1:c.1209= | NM_001349389.1:c.1209C>T |
| PEX5L transcript variant 9 | NM_001349386.2:c.1308= | NM_001349386.2:c.1308C>T |
| PEX5L transcript variant 9 | NM_001349386.1:c.1308= | NM_001349386.1:c.1308C>T |
| PEX5L transcript variant 10 | NM_001349387.2:c.1215= | NM_001349387.2:c.1215C>T |
| PEX5L transcript variant 10 | NM_001349387.1:c.1215= | NM_001349387.1:c.1215C>T |
| PEX5L transcript variant 2 | NM_001256750.2:c.1137= | NM_001256750.2:c.1137C>T |
| PEX5L transcript variant 2 | NM_001256750.1:c.1137= | NM_001256750.1:c.1137C>T |
| PEX5L transcript variant 3 | NM_001256751.2:c.1071= | NM_001256751.2:c.1071C>T |
| PEX5L transcript variant 3 | NM_001256751.1:c.1071= | NM_001256751.1:c.1071C>T |
| PEX5L transcript variant 13 | NM_001349390.2:c.1203= | NM_001349390.2:c.1203C>T |
| PEX5L transcript variant 13 | NM_001349390.1:c.1203= | NM_001349390.1:c.1203C>T |
| PEX5L transcript variant 16 | NM_001349393.2:c.1110= | NM_001349393.2:c.1110C>T |
| PEX5L transcript variant 16 | NM_001349393.1:c.1110= | NM_001349393.1:c.1110C>T |
| PEX5L transcript variant 26 | NM_001349408.2:c.567= | NM_001349408.2:c.567C>T |
| PEX5L transcript variant 26 | NM_001349408.1:c.567= | NM_001349408.1:c.567C>T |
| PEX5L transcript variant 4 | NM_001256752.2:c.1038= | NM_001256752.2:c.1038C>T |
| PEX5L transcript variant 4 | NM_001256752.1:c.1038= | NM_001256752.1:c.1038C>T |
| PEX5L transcript variant X3 | XM_024453592.2:c.1179= | XM_024453592.2:c.1179C>T |
| PEX5L transcript variant X3 | XM_024453592.1:c.1179= | XM_024453592.1:c.1179C>T |
| PEX5L transcript variant 18 | NM_001349395.2:c.1014= | NM_001349395.2:c.1014C>T |
| PEX5L transcript variant 18 | NM_001349395.1:c.1014= | NM_001349395.1:c.1014C>T |
| PEX5L transcript variant 6 | NM_001256754.2:c.1014= | NM_001256754.2:c.1014C>T |
| PEX5L transcript variant 6 | NM_001256754.1:c.1014= | NM_001256754.1:c.1014C>T |
| PEX5L transcript variant 5 | NM_001256753.2:c.966= | NM_001256753.2:c.966C>T |
| PEX5L transcript variant 5 | NM_001256753.1:c.966= | NM_001256753.1:c.966C>T |
| PEX5L transcript variant 14 | NM_001349391.2:c.1113= | NM_001349391.2:c.1113C>T |
| PEX5L transcript variant 14 | NM_001349391.1:c.1113= | NM_001349391.1:c.1113C>T |
| PEX5L transcript variant 22 | NM_001349399.2:c.567= | NM_001349399.2:c.567C>T |
| PEX5L transcript variant 22 | NM_001349399.1:c.567= | NM_001349399.1:c.567C>T |
| PEX5L transcript variant 17 | NM_001349394.2:c.1020= | NM_001349394.2:c.1020C>T |
| PEX5L transcript variant 17 | NM_001349394.1:c.1020= | NM_001349394.1:c.1020C>T |
| PEX5L transcript variant 19 | NM_001349396.2:c.942= | NM_001349396.2:c.942C>T |
| PEX5L transcript variant 19 | NM_001349396.1:c.942= | NM_001349396.1:c.942C>T |
| PEX5L transcript variant 25 | NM_001349406.2:c.567= | NM_001349406.2:c.567C>T |
| PEX5L transcript variant 25 | NM_001349406.1:c.567= | NM_001349406.1:c.567C>T |
| PEX5L transcript variant 8 | NM_001256756.2:c.567= | NM_001256756.2:c.567C>T |
| PEX5L transcript variant 8 | NM_001256756.1:c.567= | NM_001256756.1:c.567C>T |
| PEX5L transcript variant 29 | NR_146167.2:n.1223= | NR_146167.2:n.1223C>T |
| PEX5L transcript variant 29 | NR_146167.1:n.1218= | NR_146167.1:n.1218C>T |
| PEX5L transcript variant 27 | NM_001349409.2:c.567= | NM_001349409.2:c.567C>T |
| PEX5L transcript variant 27 | NM_001349409.1:c.567= | NM_001349409.1:c.567C>T |
| PEX5L transcript variant 21 | NM_001349398.2:c.876= | NM_001349398.2:c.876C>T |
| PEX5L transcript variant 21 | NM_001349398.1:c.876= | NM_001349398.1:c.876C>T |
| PEX5L transcript variant X5 | XM_024453593.2:c.1008= | XM_024453593.2:c.1008C>T |
| PEX5L transcript variant X5 | XM_024453593.1:c.1008= | XM_024453593.1:c.1008C>T |
| PEX5L transcript variant 23 | NM_001349401.2:c.567= | NM_001349401.2:c.567C>T |
| PEX5L transcript variant 23 | NM_001349401.1:c.567= | NM_001349401.1:c.567C>T |
| PEX5L transcript variant 7 | NM_001256755.2:c.819= | NM_001256755.2:c.819C>T |
| PEX5L transcript variant 7 | NM_001256755.1:c.819= | NM_001256755.1:c.819C>T |
| PEX5L transcript variant 28 | NM_001349410.2:c.567= | NM_001349410.2:c.567C>T |
| PEX5L transcript variant 28 | NM_001349410.1:c.567= | NM_001349410.1:c.567C>T |
| PEX5L transcript variant 24 | NM_001349404.2:c.567= | NM_001349404.2:c.567C>T |
| PEX5L transcript variant 24 | NM_001349404.1:c.567= | NM_001349404.1:c.567C>T |
| PEX5L transcript variant X6 | XM_047448297.1:c.948= | XM_047448297.1:c.948C>T |
| PEX5L transcript variant X7 | XM_047448298.1:c.843= | XM_047448298.1:c.843C>T |
| PEX5L transcript variant X8 | XM_047448299.1:c.771= | XM_047448299.1:c.771C>T |
| PEX5-related protein isoform X9 | XP_011511193.1:p.Val189= | XP_011511193.1:p.Val189= |
| PEX5-related protein isoform 1 | NP_057643.1:p.Val381= | NP_057643.1:p.Val381= |
| PEX5-related protein isoform X4 | XP_011511190.1:p.Val351= | XP_011511190.1:p.Val351= |
| PEX5-related protein isoform 10 | NP_001336317.1:p.Val405= | NP_001336317.1:p.Val405= |
| PEX5-related protein isoform 14 | NP_001336321.1:p.Val370= | NP_001336321.1:p.Val370= |
| PEX5-related protein isoform 17 | NP_001336326.1:p.Val305= | NP_001336326.1:p.Val305= |
| PEX5-related protein isoform X1 | XP_024309358.1:p.Val458= | XP_024309358.1:p.Val458= |
| PEX5-related protein isoform X2 | XP_024309359.1:p.Val427= | XP_024309359.1:p.Val427= |
| PEX5-related protein isoform 11 | NP_001336318.1:p.Val403= | NP_001336318.1:p.Val403= |
| PEX5-related protein isoform 9 | NP_001336315.1:p.Val436= | NP_001336315.1:p.Val436= |
| PEX5-related protein isoform 10 | NP_001336316.1:p.Val405= | NP_001336316.1:p.Val405= |
| PEX5-related protein isoform 2 | NP_001243679.1:p.Val379= | NP_001243679.1:p.Val379= |
| PEX5-related protein isoform 3 | NP_001243680.1:p.Val357= | NP_001243680.1:p.Val357= |
| PEX5-related protein isoform 12 | NP_001336319.1:p.Val401= | NP_001336319.1:p.Val401= |
| PEX5-related protein isoform 14 | NP_001336322.1:p.Val370= | NP_001336322.1:p.Val370= |
| PEX5-related protein isoform 8 | NP_001336337.1:p.Val189= | NP_001336337.1:p.Val189= |
| PEX5-related protein isoform 4 | NP_001243681.1:p.Val346= | NP_001243681.1:p.Val346= |
| PEX5-related protein isoform X3 | XP_024309360.1:p.Val393= | XP_024309360.1:p.Val393= |
| PEX5-related protein isoform 6 | NP_001336324.1:p.Val338= | NP_001336324.1:p.Val338= |
| PEX5-related protein isoform 6 | NP_001243683.1:p.Val338= | NP_001243683.1:p.Val338= |
| PEX5-related protein isoform 5 | NP_001243682.1:p.Val322= | NP_001243682.1:p.Val322= |
| PEX5-related protein isoform 13 | NP_001336320.1:p.Val371= | NP_001336320.1:p.Val371= |
| PEX5-related protein isoform 8 | NP_001336328.1:p.Val189= | NP_001336328.1:p.Val189= |
| PEX5-related protein isoform 15 | NP_001336323.1:p.Val340= | NP_001336323.1:p.Val340= |
| PEX5-related protein isoform 16 | NP_001336325.1:p.Val314= | NP_001336325.1:p.Val314= |
| PEX5-related protein isoform 8 | NP_001336335.1:p.Val189= | NP_001336335.1:p.Val189= |
| PEX5-related protein isoform 8 | NP_001243685.1:p.Val189= | NP_001243685.1:p.Val189= |
| PEX5-related protein isoform 8 | NP_001336338.1:p.Val189= | NP_001336338.1:p.Val189= |
| PEX5-related protein isoform 18 | NP_001336327.1:p.Val292= | NP_001336327.1:p.Val292= |
| PEX5-related protein isoform X5 | XP_024309361.1:p.Val336= | XP_024309361.1:p.Val336= |
| PEX5-related protein isoform 8 | NP_001336330.1:p.Val189= | NP_001336330.1:p.Val189= |
| PEX5-related protein isoform 7 | NP_001243684.1:p.Val273= | NP_001243684.1:p.Val273= |
| PEX5-related protein isoform 8 | NP_001336339.1:p.Val189= | NP_001336339.1:p.Val189= |
| PEX5-related protein isoform 8 | NP_001336333.1:p.Val189= | NP_001336333.1:p.Val189= |
| PEX5-related protein isoform X6 | XP_047304253.1:p.Val316= | XP_047304253.1:p.Val316= |
| PEX5-related protein isoform X7 | XP_047304254.1:p.Val281= | XP_047304254.1:p.Val281= |
| PEX5-related protein isoform X8 | XP_047304255.1:p.Val257= | XP_047304255.1:p.Val257= |
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#.
6 SubSNP,
5 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | BGI | ss104018718 | Dec 01, 2009 (131) |
| 2 | EVA_EXAC | ss1687303034 | Apr 01, 2015 (144) |
| 3 | GNOMAD | ss2734215411 | Nov 08, 2017 (151) |
| 4 | KHV_HUMAN_GENOMES | ss3804241239 | Jul 13, 2019 (153) |
| 5 | GNOMAD | ss4086703080 | Apr 26, 2021 (155) |
| 6 | EVA | ss5848597691 | Oct 12, 2022 (156) |
| 7 | ExAC | NC_000003.11 - 179529600 | Oct 12, 2018 (152) |
| 8 | gnomAD - Genomes | NC_000003.12 - 179811812 | Apr 26, 2021 (155) |
| 9 | gnomAD - Exomes | NC_000003.11 - 179529600 | Jul 13, 2019 (153) |
| 10 | A Vietnamese Genetic Variation Database | NC_000003.11 - 179529600 | Jul 13, 2019 (153) |
| 11 | ALFA | NC_000003.12 - 179811812 | Apr 26, 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 7250769, 3308189, 2294362, ss1687303034, ss2734215411, ss5848597691 | NC_000003.11:179529599:G:A | NC_000003.12:179811811:G:A | (self) |
| 133655645, 11807114657, ss3804241239, ss4086703080 | NC_000003.12:179811811:G:A | NC_000003.12:179811811:G:A | (self) |
| ss104018718 | NT_005612.16:86024745:G:A | NC_000003.12:179811811:G:A | (self) |
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 rs78759061
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.