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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.

rs1479663122

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:45787132 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000008 (2/264690, TOPMED)
T=0.000036 (5/137486, GnomAD)
T=0.000008 (1/123824, GnomAD_exome) (+ 1 more)
T=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WASHC2C : Missense 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 C=1.00000 T=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 C=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 C=1.000 T=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 C=1.000 T=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 C=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 496 C=1.000 T=0.000 1.0 0.0 0.0 N/A


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
TopMed Global Study-wide 264690 C=0.999992 T=0.000008
gnomAD - Genomes Global Study-wide 137486 C=0.999964 T=0.000036
gnomAD - Genomes European Sub 75016 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 40708 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13294 C=0.99970 T=0.00030
gnomAD - Genomes Ashkenazi Jewish Sub 3298 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3090 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2080 C=1.0000 T=0.0000
gnomAD - Exomes Global Study-wide 123824 C=0.999992 T=0.000008
gnomAD - Exomes European Sub 59632 C=1.00000 T=0.00000
gnomAD - Exomes Asian Sub 26224 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 21780 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 7202 C=1.0000 T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 5452 C=1.0000 T=0.0000
gnomAD - Exomes Other Sub 3534 C=0.9997 T=0.0003
Allele Frequency Aggregator Total Global 14050 C=1.00000 T=0.00000
Allele Frequency Aggregator European Sub 9690 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 2898 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Other Sub 496 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=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 10 NC_000010.11:g.45787132C>T
GRCh37.p13 chr 10 NC_000010.10:g.46282580C>T
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.58247C>T
Gene: WASHC2C, WASH complex subunit 2C (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WASHC2C transcript variant 23 NM_001367416.1:c.2689-173…

NM_001367416.1:c.2689-1739C>T

 		N/A Intron Variant
WASHC2C transcript variant 17 NM_001367409.1:c.2648C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 17 NP_001354338.1:p.Ser883Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 8 NM_001367396.1:c.2747C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 8 NP_001354325.1:p.Ser916Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 7 NM_001367395.1:c.3035C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 7 NP_001354324.1:p.Ser1012P…

NP_001354324.1:p.Ser1012Phe

 		S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 6 NM_001367394.1:c.2714C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 6 NP_001354323.1:p.Ser905Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 11 NM_001367399.1:c.2441C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 11 NP_001354328.1:p.Ser814Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 20 NM_001367412.1:c.2393C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 20 NP_001354341.1:p.Ser798Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 25 NM_001367405.1:c.2330C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 24 NP_001354334.1:p.Ser777Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 24 NM_001367402.1:c.2330C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 24 NP_001354331.1:p.Ser777Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 19 NM_001367411.1:c.2711C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 19 NP_001354340.1:p.Ser904Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 28 NM_001367406.1:c.1082C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 25 NP_001354335.1:p.Ser361Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 9 NM_001367397.1:c.2972C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 9 NP_001354326.1:p.Ser991Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 21 NM_001367413.1:c.2453C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 21 NP_001354342.1:p.Ser818Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 26 NM_001367407.1:c.2330C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 24 NP_001354336.1:p.Ser777Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 27 NM_001367414.1:c.2330C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 24 NP_001354343.1:p.Ser777Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 18 NM_001367410.1:c.2645C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 18 NP_001354339.1:p.Ser882Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 15 NM_001367404.1:c.2813C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 15 NP_001354333.1:p.Ser938Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 12 NM_001367400.1:c.2837C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 12 NP_001354329.1:p.Ser946Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 5 NM_001367393.1:c.2903C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 5 NP_001354322.1:p.Ser968Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 16 NM_001367408.1:c.2756C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 16 NP_001354337.1:p.Ser919Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 22 NM_001367415.1:c.2633C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 22 NP_001354344.1:p.Ser878Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 14 NM_001367403.1:c.2900C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 14 NP_001354332.1:p.Ser967Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 10 NM_001367398.1:c.2321C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 10 NP_001354327.1:p.Ser774Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 13 NM_001367401.1:c.2822C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 13 NP_001354330.1:p.Ser941Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 2 NM_001169106.2:c.2786C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 2 NP_001162577.1:p.Ser929Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 3 NM_001169107.2:c.2684C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 3 NP_001162578.1:p.Ser895Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 4 NM_001330074.2:c.2972C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 4 NP_001317003.1:p.Ser991Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 1 NM_015262.3:c.2909C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform 1 NP_056077.2:p.Ser970Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant 29 NR_159966.1:n.3367C>T N/A Non Coding Transcript Variant
WASHC2C transcript variant X21 XM_047424956.1:c.2602-173…

XM_047424956.1:c.2602-1739C>T

 		N/A Intron Variant
WASHC2C transcript variant X23 XM_011539572.3:c. N/A Genic Downstream Transcript Variant
WASHC2C transcript variant X1 XM_011539568.3:c.2885C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X1 XP_011537870.1:p.Ser962Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X2 XM_017016014.3:c.2849C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X2 XP_016871503.1:p.Ser950Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X3 XM_011539569.3:c.2819C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X3 XP_011537871.1:p.Ser940Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X4 XM_017016017.3:c.2813C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X4 XP_016871506.1:p.Ser938Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X5 XM_011539570.4:c.2798C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X5 XP_011537872.1:p.Ser933Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X6 XM_047424941.1:c.2777C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X6 XP_047280897.1:p.Ser926Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X7 XM_047424942.1:c.2762C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X7 XP_047280898.1:p.Ser921Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X8 XM_047424943.1:c.2750C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X8 XP_047280899.1:p.Ser917Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X9 XM_047424944.1:c.2735C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X9 XP_047280900.1:p.Ser912Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X10 XM_047424945.1:c.2732C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X10 XP_047280901.1:p.Ser911Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X11 XM_047424946.1:c.2726C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X11 XP_047280902.1:p.Ser909Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X12 XM_047424947.1:c.2711C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X12 XP_047280903.1:p.Ser904Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X13 XM_047424948.1:c.2699C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X13 XP_047280904.1:p.Ser900Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X14 XM_047424949.1:c.2696C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X14 XP_047280905.1:p.Ser899Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X15 XM_047424950.1:c.2669C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X15 XP_047280906.1:p.Ser890Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X16 XM_047424951.1:c.2663C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X16 XP_047280907.1:p.Ser888Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X17 XM_047424952.1:c.2660C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X17 XP_047280908.1:p.Ser887Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X18 XM_047424953.1:c.2633C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X18 XP_047280909.1:p.Ser878Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X19 XM_047424954.1:c.2627C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X19 XP_047280910.1:p.Ser876Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X20 XM_047424955.1:c.2609C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X20 XP_047280911.1:p.Ser870Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X22 XM_047424957.1:c.2393C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X22 XP_047280913.1:p.Ser798Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X24 XM_047424959.1:c.1082C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X24 XP_047280915.1:p.Ser361Phe S (Ser) > F (Phe) Missense Variant
WASHC2C transcript variant X25 XM_011539573.4:c.1076C>T S [TCT] > F [TTT] Coding Sequence Variant
WASH complex subunit 2C isoform X25 XP_011537875.1:p.Ser359Phe S (Ser) > F (Phe) 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 C= T
GRCh38.p14 chr 10 NC_000010.11:g.45787132= NC_000010.11:g.45787132C>T
GRCh37.p13 chr 10 NC_000010.10:g.46282580= NC_000010.10:g.46282580C>T
GRCh37.p13 chr 10 fix patch HG1211_PATCH NW_003871068.1:g.58247= NW_003871068.1:g.58247C>T
WASHC2C transcript variant X5 XM_011539570.4:c.2798= XM_011539570.4:c.2798C>T
WASHC2C transcript variant X8 XM_011539570.3:c.2798= XM_011539570.3:c.2798C>T
FAM21C transcript variant X9 XM_011539570.2:c.2798= XM_011539570.2:c.2798C>T
FAM21C transcript variant X5 XM_011539570.1:c.2798= XM_011539570.1:c.2798C>T
WASHC2C transcript variant X25 XM_011539573.4:c.1076= XM_011539573.4:c.1076C>T
WASHC2C transcript variant X20 XM_011539573.3:c.1076= XM_011539573.3:c.1076C>T
FAM21C transcript variant X20 XM_011539573.2:c.1076= XM_011539573.2:c.1076C>T
FAM21C transcript variant X8 XM_011539573.1:c.1076= XM_011539573.1:c.1076C>T
WASHC2C transcript variant 1 NM_015262.3:c.2909= NM_015262.3:c.2909C>T
WASHC2C transcript variant 1 NM_015262.2:c.2909= NM_015262.2:c.2909C>T
WASHC2C transcript variant X1 XM_011539568.3:c.2885= XM_011539568.3:c.2885C>T
WASHC2C transcript variant X2 XM_011539568.2:c.2885= XM_011539568.2:c.2885C>T
FAM21C transcript variant X3 XM_011539568.1:c.2885= XM_011539568.1:c.2885C>T
WASHC2C transcript variant X2 XM_017016014.3:c.2849= XM_017016014.3:c.2849C>T
WASHC2C transcript variant X3 XM_017016014.2:c.2849= XM_017016014.2:c.2849C>T
FAM21C transcript variant X4 XM_017016014.1:c.2849= XM_017016014.1:c.2849C>T
WASHC2C transcript variant X3 XM_011539569.3:c.2819= XM_011539569.3:c.2819C>T
WASHC2C transcript variant X6 XM_011539569.2:c.2819= XM_011539569.2:c.2819C>T
FAM21C transcript variant X7 XM_011539569.1:c.2819= XM_011539569.1:c.2819C>T
WASHC2C transcript variant X4 XM_017016017.3:c.2813= XM_017016017.3:c.2813C>T
WASHC2C transcript variant X7 XM_017016017.2:c.2813= XM_017016017.2:c.2813C>T
FAM21C transcript variant X8 XM_017016017.1:c.2813= XM_017016017.1:c.2813C>T
WASHC2C transcript variant 4 NM_001330074.2:c.2972= NM_001330074.2:c.2972C>T
WASHC2C transcript variant 4 NM_001330074.1:c.2972= NM_001330074.1:c.2972C>T
WASHC2C transcript variant 2 NM_001169106.2:c.2786= NM_001169106.2:c.2786C>T
WASHC2C transcript variant 2 NM_001169106.1:c.2786= NM_001169106.1:c.2786C>T
WASHC2C transcript variant 3 NM_001169107.2:c.2684= NM_001169107.2:c.2684C>T
WASHC2C transcript variant 3 NM_001169107.1:c.2684= NM_001169107.1:c.2684C>T
WASHC2C transcript variant 29 NR_159966.1:n.3367= NR_159966.1:n.3367C>T
WASHC2C transcript variant 20 NM_001367412.1:c.2393= NM_001367412.1:c.2393C>T
WASHC2C transcript variant 7 NM_001367395.1:c.3035= NM_001367395.1:c.3035C>T
WASHC2C transcript variant 25 NM_001367405.1:c.2330= NM_001367405.1:c.2330C>T
WASHC2C transcript variant 26 NM_001367407.1:c.2330= NM_001367407.1:c.2330C>T
WASHC2C transcript variant 10 NM_001367398.1:c.2321= NM_001367398.1:c.2321C>T
WASHC2C transcript variant 27 NM_001367414.1:c.2330= NM_001367414.1:c.2330C>T
WASHC2C transcript variant 5 NM_001367393.1:c.2903= NM_001367393.1:c.2903C>T
WASHC2C transcript variant 19 NM_001367411.1:c.2711= NM_001367411.1:c.2711C>T
WASHC2C transcript variant 24 NM_001367402.1:c.2330= NM_001367402.1:c.2330C>T
WASHC2C transcript variant 14 NM_001367403.1:c.2900= NM_001367403.1:c.2900C>T
WASHC2C transcript variant 17 NM_001367409.1:c.2648= NM_001367409.1:c.2648C>T
WASHC2C transcript variant 18 NM_001367410.1:c.2645= NM_001367410.1:c.2645C>T
WASHC2C transcript variant 12 NM_001367400.1:c.2837= NM_001367400.1:c.2837C>T
WASHC2C transcript variant 13 NM_001367401.1:c.2822= NM_001367401.1:c.2822C>T
WASHC2C transcript variant 15 NM_001367404.1:c.2813= NM_001367404.1:c.2813C>T
WASHC2C transcript variant 28 NM_001367406.1:c.1082= NM_001367406.1:c.1082C>T
WASHC2C transcript variant X6 XM_047424941.1:c.2777= XM_047424941.1:c.2777C>T
WASHC2C transcript variant X7 XM_047424942.1:c.2762= XM_047424942.1:c.2762C>T
WASHC2C transcript variant 16 NM_001367408.1:c.2756= NM_001367408.1:c.2756C>T
WASHC2C transcript variant X8 XM_047424943.1:c.2750= XM_047424943.1:c.2750C>T
WASHC2C transcript variant 8 NM_001367396.1:c.2747= NM_001367396.1:c.2747C>T
WASHC2C transcript variant 9 NM_001367397.1:c.2972= NM_001367397.1:c.2972C>T
WASHC2C transcript variant X9 XM_047424944.1:c.2735= XM_047424944.1:c.2735C>T
WASHC2C transcript variant X10 XM_047424945.1:c.2732= XM_047424945.1:c.2732C>T
WASHC2C transcript variant X11 XM_047424946.1:c.2726= XM_047424946.1:c.2726C>T
WASHC2C transcript variant 6 NM_001367394.1:c.2714= NM_001367394.1:c.2714C>T
WASHC2C transcript variant X12 XM_047424947.1:c.2711= XM_047424947.1:c.2711C>T
WASHC2C transcript variant X13 XM_047424948.1:c.2699= XM_047424948.1:c.2699C>T
WASHC2C transcript variant X14 XM_047424949.1:c.2696= XM_047424949.1:c.2696C>T
WASHC2C transcript variant 21 NM_001367413.1:c.2453= NM_001367413.1:c.2453C>T
WASHC2C transcript variant X15 XM_047424950.1:c.2669= XM_047424950.1:c.2669C>T
WASHC2C transcript variant X16 XM_047424951.1:c.2663= XM_047424951.1:c.2663C>T
WASHC2C transcript variant X17 XM_047424952.1:c.2660= XM_047424952.1:c.2660C>T
WASHC2C transcript variant 11 NM_001367399.1:c.2441= NM_001367399.1:c.2441C>T
WASHC2C transcript variant X22 XM_047424957.1:c.2393= XM_047424957.1:c.2393C>T
WASHC2C transcript variant X18 XM_047424953.1:c.2633= XM_047424953.1:c.2633C>T
WASHC2C transcript variant 22 NM_001367415.1:c.2633= NM_001367415.1:c.2633C>T
WASHC2C transcript variant X19 XM_047424954.1:c.2627= XM_047424954.1:c.2627C>T
WASHC2C transcript variant X20 XM_047424955.1:c.2609= XM_047424955.1:c.2609C>T
WASHC2C transcript variant X24 XM_047424959.1:c.1082= XM_047424959.1:c.1082C>T
WASH complex subunit 2C isoform X5 XP_011537872.1:p.Ser933= XP_011537872.1:p.Ser933Phe
WASH complex subunit 2C isoform X25 XP_011537875.1:p.Ser359= XP_011537875.1:p.Ser359Phe
WASH complex subunit 2C isoform 1 NP_056077.2:p.Ser970= NP_056077.2:p.Ser970Phe
WASH complex subunit 2C isoform X1 XP_011537870.1:p.Ser962= XP_011537870.1:p.Ser962Phe
WASH complex subunit 2C isoform X2 XP_016871503.1:p.Ser950= XP_016871503.1:p.Ser950Phe
WASH complex subunit 2C isoform X3 XP_011537871.1:p.Ser940= XP_011537871.1:p.Ser940Phe
WASH complex subunit 2C isoform X4 XP_016871506.1:p.Ser938= XP_016871506.1:p.Ser938Phe
WASH complex subunit 2C isoform 4 NP_001317003.1:p.Ser991= NP_001317003.1:p.Ser991Phe
WASH complex subunit 2C isoform 2 NP_001162577.1:p.Ser929= NP_001162577.1:p.Ser929Phe
WASH complex subunit 2C isoform 3 NP_001162578.1:p.Ser895= NP_001162578.1:p.Ser895Phe
WASH complex subunit 2C isoform 20 NP_001354341.1:p.Ser798= NP_001354341.1:p.Ser798Phe
WASH complex subunit 2C isoform 7 NP_001354324.1:p.Ser1012= NP_001354324.1:p.Ser1012Phe
WASH complex subunit 2C isoform 24 NP_001354334.1:p.Ser777= NP_001354334.1:p.Ser777Phe
WASH complex subunit 2C isoform 24 NP_001354336.1:p.Ser777= NP_001354336.1:p.Ser777Phe
WASH complex subunit 2C isoform 10 NP_001354327.1:p.Ser774= NP_001354327.1:p.Ser774Phe
WASH complex subunit 2C isoform 24 NP_001354343.1:p.Ser777= NP_001354343.1:p.Ser777Phe
WASH complex subunit 2C isoform 5 NP_001354322.1:p.Ser968= NP_001354322.1:p.Ser968Phe
WASH complex subunit 2C isoform 19 NP_001354340.1:p.Ser904= NP_001354340.1:p.Ser904Phe
WASH complex subunit 2C isoform 24 NP_001354331.1:p.Ser777= NP_001354331.1:p.Ser777Phe
WASH complex subunit 2C isoform 14 NP_001354332.1:p.Ser967= NP_001354332.1:p.Ser967Phe
WASH complex subunit 2C isoform 17 NP_001354338.1:p.Ser883= NP_001354338.1:p.Ser883Phe
WASH complex subunit 2C isoform 18 NP_001354339.1:p.Ser882= NP_001354339.1:p.Ser882Phe
WASH complex subunit 2C isoform 12 NP_001354329.1:p.Ser946= NP_001354329.1:p.Ser946Phe
WASH complex subunit 2C isoform 13 NP_001354330.1:p.Ser941= NP_001354330.1:p.Ser941Phe
WASH complex subunit 2C isoform 15 NP_001354333.1:p.Ser938= NP_001354333.1:p.Ser938Phe
WASH complex subunit 2C isoform 25 NP_001354335.1:p.Ser361= NP_001354335.1:p.Ser361Phe
WASH complex subunit 2C isoform X6 XP_047280897.1:p.Ser926= XP_047280897.1:p.Ser926Phe
WASH complex subunit 2C isoform X7 XP_047280898.1:p.Ser921= XP_047280898.1:p.Ser921Phe
WASH complex subunit 2C isoform 16 NP_001354337.1:p.Ser919= NP_001354337.1:p.Ser919Phe
WASH complex subunit 2C isoform X8 XP_047280899.1:p.Ser917= XP_047280899.1:p.Ser917Phe
WASH complex subunit 2C isoform 8 NP_001354325.1:p.Ser916= NP_001354325.1:p.Ser916Phe
WASH complex subunit 2C isoform 9 NP_001354326.1:p.Ser991= NP_001354326.1:p.Ser991Phe
WASH complex subunit 2C isoform X9 XP_047280900.1:p.Ser912= XP_047280900.1:p.Ser912Phe
WASH complex subunit 2C isoform X10 XP_047280901.1:p.Ser911= XP_047280901.1:p.Ser911Phe
WASH complex subunit 2C isoform X11 XP_047280902.1:p.Ser909= XP_047280902.1:p.Ser909Phe
WASH complex subunit 2C isoform 6 NP_001354323.1:p.Ser905= NP_001354323.1:p.Ser905Phe
WASH complex subunit 2C isoform X12 XP_047280903.1:p.Ser904= XP_047280903.1:p.Ser904Phe
WASH complex subunit 2C isoform X13 XP_047280904.1:p.Ser900= XP_047280904.1:p.Ser900Phe
WASH complex subunit 2C isoform X14 XP_047280905.1:p.Ser899= XP_047280905.1:p.Ser899Phe
WASH complex subunit 2C isoform 21 NP_001354342.1:p.Ser818= NP_001354342.1:p.Ser818Phe
WASH complex subunit 2C isoform X15 XP_047280906.1:p.Ser890= XP_047280906.1:p.Ser890Phe
WASH complex subunit 2C isoform X16 XP_047280907.1:p.Ser888= XP_047280907.1:p.Ser888Phe
WASH complex subunit 2C isoform X17 XP_047280908.1:p.Ser887= XP_047280908.1:p.Ser887Phe
WASH complex subunit 2C isoform 11 NP_001354328.1:p.Ser814= NP_001354328.1:p.Ser814Phe
WASH complex subunit 2C isoform X22 XP_047280913.1:p.Ser798= XP_047280913.1:p.Ser798Phe
WASH complex subunit 2C isoform X18 XP_047280909.1:p.Ser878= XP_047280909.1:p.Ser878Phe
WASH complex subunit 2C isoform 22 NP_001354344.1:p.Ser878= NP_001354344.1:p.Ser878Phe
WASH complex subunit 2C isoform X19 XP_047280910.1:p.Ser876= XP_047280910.1:p.Ser876Phe
WASH complex subunit 2C isoform X20 XP_047280911.1:p.Ser870= XP_047280911.1:p.Ser870Phe
WASH complex subunit 2C isoform X24 XP_047280915.1:p.Ser361= XP_047280915.1:p.Ser361Phe
WASHC2C transcript variant 23 NM_001367416.1:c.2689-1739= NM_001367416.1:c.2689-1739C>T
WASHC2C transcript variant X21 XM_047424956.1:c.2602-1739= XM_047424956.1:c.2602-1739C>T
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#.

3 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738220404 Oct 12, 2018 (152)
2 GNOMAD ss4217549282 Apr 27, 2021 (155)
3 TOPMED ss4850910615 Apr 27, 2021 (155)
4 gnomAD - Genomes NC_000010.11 - 45787132 Apr 27, 2021 (155)
5 gnomAD - Exomes NC_000010.10 - 46282580 Jul 13, 2019 (153)
6 TopMed NC_000010.11 - 45787132 Apr 27, 2021 (155)
7 ALFA NC_000010.11 - 45787132 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
7418681, ss2738220404 NC_000010.10:46282579:C:T NC_000010.11:45787131:C:T (self)
350868797, 66456270, 7884838088, ss4217549282, ss4850910615 NC_000010.11:45787131:C:T NC_000010.11:45787131:C:T (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 rs1479663122

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
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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