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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1487286014

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:179808319 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/244330, GnomAD_exome)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PEX5L : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
Help

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 244330 T=0.999996 C=0.000004
gnomAD - Exomes European Sub 133460 T=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 46746 T=1.00000 C=0.00000
gnomAD - Exomes American Sub 32334 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16040 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9820 T=1.0000 C=0.0000
gnomAD - Exomes Other Sub 5930 T=1.0000 C=0.0000
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.179808319T>C
GRCh37.p13 chr 3 NC_000003.11:g.179526107T>C
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.1471A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 1 NP_057643.1:p.Asn491Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 22 NM_001349399.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336328.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 21 NM_001349398.2:c.1204A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 18 NP_001336327.1:p.Asn402Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 11 NM_001349388.2:c.1543A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 10 NP_001336317.1:p.Asn515Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 5 NM_001256753.2:c.1294A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 5 NP_001243682.1:p.Asn432Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 15 NM_001349392.2:c.1438A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 14 NP_001336321.1:p.Asn480Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 8 NM_001256756.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001243685.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 13 NM_001349390.2:c.1531A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 12 NP_001336319.1:p.Asn511Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 23 NM_001349401.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336330.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 14 NM_001349391.2:c.1441A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 13 NP_001336320.1:p.Asn481Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 24 NM_001349404.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336333.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 19 NM_001349396.2:c.1270A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 16 NP_001336325.1:p.Asn424Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 7 NM_001256755.2:c.1147A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 7 NP_001243684.1:p.Asn383Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 28 NM_001349410.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336339.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 9 NM_001349386.2:c.1636A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 9 NP_001336315.1:p.Asn546Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 16 NM_001349393.2:c.1438A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 14 NP_001336322.1:p.Asn480Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 26 NM_001349408.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336337.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 20 NM_001349397.2:c.1243A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 17 NP_001336326.1:p.Asn415Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 27 NM_001349409.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336338.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 6 NM_001256754.2:c.1342A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 6 NP_001243683.1:p.Asn448Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 25 NM_001349406.2:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 8 NP_001336335.1:p.Asn299Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 18 NM_001349395.2:c.1342A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 6 NP_001336324.1:p.Asn448Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 4 NM_001256752.2:c.1366A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 4 NP_001243681.1:p.Asn456Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 10 NM_001349387.2:c.1543A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 10 NP_001336316.1:p.Asn515Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 2 NM_001256750.2:c.1465A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 2 NP_001243679.1:p.Asn489Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 3 NM_001256751.2:c.1399A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 3 NP_001243680.1:p.Asn467Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 17 NM_001349394.2:c.1348A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 15 NP_001336323.1:p.Asn450Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 12 NM_001349389.2:c.1537A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform 11 NP_001336318.1:p.Asn513Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant 29 NR_146167.2:n.1551A>G N/A Non Coding Transcript Variant
PEX5L transcript variant X1 XM_024453590.2:c.1702A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X1 XP_024309358.1:p.Asn568Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X2 XM_024453591.2:c.1609A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X2 XP_024309359.1:p.Asn537Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X3 XM_024453592.2:c.1507A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X3 XP_024309360.1:p.Asn503Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X4 XM_011512888.3:c.1381A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X4 XP_011511190.1:p.Asn461Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X5 XM_024453593.2:c.1336A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X5 XP_024309361.1:p.Asn446Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X6 XM_047448297.1:c.1276A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X6 XP_047304253.1:p.Asn426Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X7 XM_047448298.1:c.1171A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X7 XP_047304254.1:p.Asn391Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X8 XM_047448299.1:c.1099A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X8 XP_047304255.1:p.Asn367Asp N (Asn) > D (Asp) Missense Variant
PEX5L transcript variant X9 XM_011512891.3:c.895A>G N [AAT] > D [GAT] Coding Sequence Variant
PEX5-related protein isoform X9 XP_011511193.1:p.Asn299Asp N (Asn) > D (Asp) Missense 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 T= C
GRCh38.p14 chr 3 NC_000003.12:g.179808319= NC_000003.12:g.179808319T>C
GRCh37.p13 chr 3 NC_000003.11:g.179526107= NC_000003.11:g.179526107T>C
PEX5L transcript variant X9 XM_011512891.3:c.895= XM_011512891.3:c.895A>G
PEX5L transcript variant X6 XM_011512891.2:c.895= XM_011512891.2:c.895A>G
PEX5L transcript variant X11 XM_011512891.1:c.895= XM_011512891.1:c.895A>G
PEX5L transcript variant 1 NM_016559.3:c.1471= NM_016559.3:c.1471A>G
PEX5L transcript variant 1 NM_016559.2:c.1471= NM_016559.2:c.1471A>G
PEX5L transcript variant X4 XM_011512888.3:c.1381= XM_011512888.3:c.1381A>G
PEX5L transcript variant X4 XM_011512888.2:c.1381= XM_011512888.2:c.1381A>G
PEX5L transcript variant X7 XM_011512888.1:c.1381= XM_011512888.1:c.1381A>G
PEX5L transcript variant 11 NM_001349388.2:c.1543= NM_001349388.2:c.1543A>G
PEX5L transcript variant 11 NM_001349388.1:c.1543= NM_001349388.1:c.1543A>G
PEX5L transcript variant 15 NM_001349392.2:c.1438= NM_001349392.2:c.1438A>G
PEX5L transcript variant 15 NM_001349392.1:c.1438= NM_001349392.1:c.1438A>G
PEX5L transcript variant 20 NM_001349397.2:c.1243= NM_001349397.2:c.1243A>G
PEX5L transcript variant 20 NM_001349397.1:c.1243= NM_001349397.1:c.1243A>G
PEX5L transcript variant X1 XM_024453590.2:c.1702= XM_024453590.2:c.1702A>G
PEX5L transcript variant X1 XM_024453590.1:c.1702= XM_024453590.1:c.1702A>G
PEX5L transcript variant X2 XM_024453591.2:c.1609= XM_024453591.2:c.1609A>G
PEX5L transcript variant X2 XM_024453591.1:c.1609= XM_024453591.1:c.1609A>G
PEX5L transcript variant 12 NM_001349389.2:c.1537= NM_001349389.2:c.1537A>G
PEX5L transcript variant 12 NM_001349389.1:c.1537= NM_001349389.1:c.1537A>G
PEX5L transcript variant 9 NM_001349386.2:c.1636= NM_001349386.2:c.1636A>G
PEX5L transcript variant 9 NM_001349386.1:c.1636= NM_001349386.1:c.1636A>G
PEX5L transcript variant 10 NM_001349387.2:c.1543= NM_001349387.2:c.1543A>G
PEX5L transcript variant 10 NM_001349387.1:c.1543= NM_001349387.1:c.1543A>G
PEX5L transcript variant 2 NM_001256750.2:c.1465= NM_001256750.2:c.1465A>G
PEX5L transcript variant 2 NM_001256750.1:c.1465= NM_001256750.1:c.1465A>G
PEX5L transcript variant 3 NM_001256751.2:c.1399= NM_001256751.2:c.1399A>G
PEX5L transcript variant 3 NM_001256751.1:c.1399= NM_001256751.1:c.1399A>G
PEX5L transcript variant 13 NM_001349390.2:c.1531= NM_001349390.2:c.1531A>G
PEX5L transcript variant 13 NM_001349390.1:c.1531= NM_001349390.1:c.1531A>G
PEX5L transcript variant 16 NM_001349393.2:c.1438= NM_001349393.2:c.1438A>G
PEX5L transcript variant 16 NM_001349393.1:c.1438= NM_001349393.1:c.1438A>G
PEX5L transcript variant 26 NM_001349408.2:c.895= NM_001349408.2:c.895A>G
PEX5L transcript variant 26 NM_001349408.1:c.895= NM_001349408.1:c.895A>G
PEX5L transcript variant 4 NM_001256752.2:c.1366= NM_001256752.2:c.1366A>G
PEX5L transcript variant 4 NM_001256752.1:c.1366= NM_001256752.1:c.1366A>G
PEX5L transcript variant X3 XM_024453592.2:c.1507= XM_024453592.2:c.1507A>G
PEX5L transcript variant X3 XM_024453592.1:c.1507= XM_024453592.1:c.1507A>G
PEX5L transcript variant 18 NM_001349395.2:c.1342= NM_001349395.2:c.1342A>G
PEX5L transcript variant 18 NM_001349395.1:c.1342= NM_001349395.1:c.1342A>G
PEX5L transcript variant 6 NM_001256754.2:c.1342= NM_001256754.2:c.1342A>G
PEX5L transcript variant 6 NM_001256754.1:c.1342= NM_001256754.1:c.1342A>G
PEX5L transcript variant 5 NM_001256753.2:c.1294= NM_001256753.2:c.1294A>G
PEX5L transcript variant 5 NM_001256753.1:c.1294= NM_001256753.1:c.1294A>G
PEX5L transcript variant 14 NM_001349391.2:c.1441= NM_001349391.2:c.1441A>G
PEX5L transcript variant 14 NM_001349391.1:c.1441= NM_001349391.1:c.1441A>G
PEX5L transcript variant 22 NM_001349399.2:c.895= NM_001349399.2:c.895A>G
PEX5L transcript variant 22 NM_001349399.1:c.895= NM_001349399.1:c.895A>G
PEX5L transcript variant 17 NM_001349394.2:c.1348= NM_001349394.2:c.1348A>G
PEX5L transcript variant 17 NM_001349394.1:c.1348= NM_001349394.1:c.1348A>G
PEX5L transcript variant 19 NM_001349396.2:c.1270= NM_001349396.2:c.1270A>G
PEX5L transcript variant 19 NM_001349396.1:c.1270= NM_001349396.1:c.1270A>G
PEX5L transcript variant 25 NM_001349406.2:c.895= NM_001349406.2:c.895A>G
PEX5L transcript variant 25 NM_001349406.1:c.895= NM_001349406.1:c.895A>G
PEX5L transcript variant 8 NM_001256756.2:c.895= NM_001256756.2:c.895A>G
PEX5L transcript variant 8 NM_001256756.1:c.895= NM_001256756.1:c.895A>G
PEX5L transcript variant 29 NR_146167.2:n.1551= NR_146167.2:n.1551A>G
PEX5L transcript variant 29 NR_146167.1:n.1546= NR_146167.1:n.1546A>G
PEX5L transcript variant 27 NM_001349409.2:c.895= NM_001349409.2:c.895A>G
PEX5L transcript variant 27 NM_001349409.1:c.895= NM_001349409.1:c.895A>G
PEX5L transcript variant 21 NM_001349398.2:c.1204= NM_001349398.2:c.1204A>G
PEX5L transcript variant 21 NM_001349398.1:c.1204= NM_001349398.1:c.1204A>G
PEX5L transcript variant X5 XM_024453593.2:c.1336= XM_024453593.2:c.1336A>G
PEX5L transcript variant X5 XM_024453593.1:c.1336= XM_024453593.1:c.1336A>G
PEX5L transcript variant 23 NM_001349401.2:c.895= NM_001349401.2:c.895A>G
PEX5L transcript variant 23 NM_001349401.1:c.895= NM_001349401.1:c.895A>G
PEX5L transcript variant 7 NM_001256755.2:c.1147= NM_001256755.2:c.1147A>G
PEX5L transcript variant 7 NM_001256755.1:c.1147= NM_001256755.1:c.1147A>G
PEX5L transcript variant 28 NM_001349410.2:c.895= NM_001349410.2:c.895A>G
PEX5L transcript variant 28 NM_001349410.1:c.895= NM_001349410.1:c.895A>G
PEX5L transcript variant 24 NM_001349404.2:c.895= NM_001349404.2:c.895A>G
PEX5L transcript variant 24 NM_001349404.1:c.895= NM_001349404.1:c.895A>G
PEX5L transcript variant X6 XM_047448297.1:c.1276= XM_047448297.1:c.1276A>G
PEX5L transcript variant X7 XM_047448298.1:c.1171= XM_047448298.1:c.1171A>G
PEX5L transcript variant X8 XM_047448299.1:c.1099= XM_047448299.1:c.1099A>G
PEX5-related protein isoform X9 XP_011511193.1:p.Asn299= XP_011511193.1:p.Asn299Asp
PEX5-related protein isoform 1 NP_057643.1:p.Asn491= NP_057643.1:p.Asn491Asp
PEX5-related protein isoform X4 XP_011511190.1:p.Asn461= XP_011511190.1:p.Asn461Asp
PEX5-related protein isoform 10 NP_001336317.1:p.Asn515= NP_001336317.1:p.Asn515Asp
PEX5-related protein isoform 14 NP_001336321.1:p.Asn480= NP_001336321.1:p.Asn480Asp
PEX5-related protein isoform 17 NP_001336326.1:p.Asn415= NP_001336326.1:p.Asn415Asp
PEX5-related protein isoform X1 XP_024309358.1:p.Asn568= XP_024309358.1:p.Asn568Asp
PEX5-related protein isoform X2 XP_024309359.1:p.Asn537= XP_024309359.1:p.Asn537Asp
PEX5-related protein isoform 11 NP_001336318.1:p.Asn513= NP_001336318.1:p.Asn513Asp
PEX5-related protein isoform 9 NP_001336315.1:p.Asn546= NP_001336315.1:p.Asn546Asp
PEX5-related protein isoform 10 NP_001336316.1:p.Asn515= NP_001336316.1:p.Asn515Asp
PEX5-related protein isoform 2 NP_001243679.1:p.Asn489= NP_001243679.1:p.Asn489Asp
PEX5-related protein isoform 3 NP_001243680.1:p.Asn467= NP_001243680.1:p.Asn467Asp
PEX5-related protein isoform 12 NP_001336319.1:p.Asn511= NP_001336319.1:p.Asn511Asp
PEX5-related protein isoform 14 NP_001336322.1:p.Asn480= NP_001336322.1:p.Asn480Asp
PEX5-related protein isoform 8 NP_001336337.1:p.Asn299= NP_001336337.1:p.Asn299Asp
PEX5-related protein isoform 4 NP_001243681.1:p.Asn456= NP_001243681.1:p.Asn456Asp
PEX5-related protein isoform X3 XP_024309360.1:p.Asn503= XP_024309360.1:p.Asn503Asp
PEX5-related protein isoform 6 NP_001336324.1:p.Asn448= NP_001336324.1:p.Asn448Asp
PEX5-related protein isoform 6 NP_001243683.1:p.Asn448= NP_001243683.1:p.Asn448Asp
PEX5-related protein isoform 5 NP_001243682.1:p.Asn432= NP_001243682.1:p.Asn432Asp
PEX5-related protein isoform 13 NP_001336320.1:p.Asn481= NP_001336320.1:p.Asn481Asp
PEX5-related protein isoform 8 NP_001336328.1:p.Asn299= NP_001336328.1:p.Asn299Asp
PEX5-related protein isoform 15 NP_001336323.1:p.Asn450= NP_001336323.1:p.Asn450Asp
PEX5-related protein isoform 16 NP_001336325.1:p.Asn424= NP_001336325.1:p.Asn424Asp
PEX5-related protein isoform 8 NP_001336335.1:p.Asn299= NP_001336335.1:p.Asn299Asp
PEX5-related protein isoform 8 NP_001243685.1:p.Asn299= NP_001243685.1:p.Asn299Asp
PEX5-related protein isoform 8 NP_001336338.1:p.Asn299= NP_001336338.1:p.Asn299Asp
PEX5-related protein isoform 18 NP_001336327.1:p.Asn402= NP_001336327.1:p.Asn402Asp
PEX5-related protein isoform X5 XP_024309361.1:p.Asn446= XP_024309361.1:p.Asn446Asp
PEX5-related protein isoform 8 NP_001336330.1:p.Asn299= NP_001336330.1:p.Asn299Asp
PEX5-related protein isoform 7 NP_001243684.1:p.Asn383= NP_001243684.1:p.Asn383Asp
PEX5-related protein isoform 8 NP_001336339.1:p.Asn299= NP_001336339.1:p.Asn299Asp
PEX5-related protein isoform 8 NP_001336333.1:p.Asn299= NP_001336333.1:p.Asn299Asp
PEX5-related protein isoform X6 XP_047304253.1:p.Asn426= XP_047304253.1:p.Asn426Asp
PEX5-related protein isoform X7 XP_047304254.1:p.Asn391= XP_047304254.1:p.Asn391Asp
PEX5-related protein isoform X8 XP_047304255.1:p.Asn367= XP_047304255.1:p.Asn367Asp
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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#.

1 SubSNP, 1 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2734215314 Nov 08, 2017 (151)
2 gnomAD - Exomes NC_000003.11 - 179526107 Jul 13, 2019 (153)
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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
3308082, ss2734215314 NC_000003.11:179526106:T:C NC_000003.12:179808318:T:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1487286014

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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
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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.

Software version is: 2.0.1.post820+afb47a3d