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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.

rs55653533

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:47463124 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000028 (7/251294, GnomAD_exome)
C=0.000007 (1/140202, GnomAD)
C=0.000033 (4/121234, ExAC) (+ 3 more)
C=0.00000 (0/14050, ALFA)
C=0.0002 (1/6404, 1000G_30x)
C=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
MSH2 : Missense Variant
Publications
1 citation
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 T=1.00000 C=0.00000
European Sub 9690 T=1.0000 C=0.0000
African Sub 2898 T=1.0000 C=0.0000
African Others Sub 114 T=1.000 C=0.000
African American Sub 2784 T=1.0000 C=0.0000
Asian Sub 112 T=1.000 C=0.000
East Asian Sub 86 T=1.00 C=0.00
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 146 T=1.000 C=0.000
Latin American 2 Sub 610 T=1.000 C=0.000
South Asian Sub 98 T=1.00 C=0.00
Other Sub 496 T=1.000 C=0.000


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 251294 T=0.999972 C=0.000028
gnomAD - Exomes European Sub 135268 T=1.000000 C=0.000000
gnomAD - Exomes Asian Sub 49006 T=0.99986 C=0.00014
gnomAD - Exomes American Sub 34584 T=1.00000 C=0.00000
gnomAD - Exomes African Sub 16234 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6124 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140202 T=0.999993 C=0.000007
gnomAD - Genomes European Sub 75938 T=1.00000 C=0.00000
gnomAD - Genomes African Sub 42022 T=1.00000 C=0.00000
gnomAD - Genomes American Sub 13640 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 T=0.9997 C=0.0003
gnomAD - Genomes Other Sub 2150 T=1.0000 C=0.0000
ExAC Global Study-wide 121234 T=0.999967 C=0.000033
ExAC Europe Sub 73318 T=1.00000 C=0.00000
ExAC Asian Sub 25162 T=0.99984 C=0.00016
ExAC American Sub 11578 T=1.00000 C=0.00000
ExAC African Sub 10268 T=1.00000 C=0.00000
ExAC Other Sub 908 T=1.000 C=0.000
Allele Frequency Aggregator Total Global 14050 T=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 9690 T=1.0000 C=0.0000
Allele Frequency Aggregator African Sub 2898 T=1.0000 C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 T=1.000 C=0.000
Allele Frequency Aggregator Other Sub 496 T=1.000 C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 T=1.000 C=0.000
Allele Frequency Aggregator Asian Sub 112 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 98 T=1.00 C=0.00
1000Genomes_30x Global Study-wide 6404 T=0.9998 C=0.0002
1000Genomes_30x African Sub 1786 T=1.0000 C=0.0000
1000Genomes_30x Europe Sub 1266 T=1.0000 C=0.0000
1000Genomes_30x South Asian Sub 1202 T=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 T=0.9991 C=0.0009
1000Genomes_30x American Sub 980 T=1.000 C=0.000
1000Genomes Global Study-wide 5008 T=0.9998 C=0.0002
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=0.9990 C=0.0010
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
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 2 NC_000002.12:g.47463124T>A
GRCh38.p14 chr 2 NC_000002.12:g.47463124T>C
GRCh37.p13 chr 2 NC_000002.11:g.47690263T>A
GRCh37.p13 chr 2 NC_000002.11:g.47690263T>C
MSH2 RefSeqGene (LRG_218) NG_007110.2:g.65001T>A
MSH2 RefSeqGene (LRG_218) NG_007110.2:g.65001T>C
Gene: MSH2, mutS homolog 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MSH2 transcript variant 2 NM_001258281.1:c.1282T>A S [TCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 2 NP_001245210.1:p.Ser428Thr S (Ser) > T (Thr) Missense Variant
MSH2 transcript variant 2 NM_001258281.1:c.1282T>C S [TCA] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 2 NP_001245210.1:p.Ser428Pro S (Ser) > P (Pro) Missense Variant
MSH2 transcript variant 1 NM_000251.3:c.1480T>A S [TCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 1 NP_000242.1:p.Ser494Thr S (Ser) > T (Thr) Missense Variant
MSH2 transcript variant 1 NM_000251.3:c.1480T>C S [TCA] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform 1 NP_000242.1:p.Ser494Pro S (Ser) > P (Pro) Missense Variant
MSH2 transcript variant X1 XM_005264332.5:c.1480T>A S [TCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1 XP_005264389.2:p.Ser494Thr S (Ser) > T (Thr) Missense Variant
MSH2 transcript variant X1 XM_005264332.5:c.1480T>C S [TCA] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1 XP_005264389.2:p.Ser494Pro S (Ser) > P (Pro) Missense Variant
MSH2 transcript variant X1 XM_047444416.1:c.1480T>A S [TCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1 XP_047300372.1:p.Ser494Thr S (Ser) > T (Thr) Missense Variant
MSH2 transcript variant X1 XM_047444416.1:c.1480T>C S [TCA] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X1 XP_047300372.1:p.Ser494Pro S (Ser) > P (Pro) Missense Variant
MSH2 transcript variant X4 XM_011532867.3:c.1480T>A S [TCA] > T [ACA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X3 XP_011531169.1:p.Ser494Thr S (Ser) > T (Thr) Missense Variant
MSH2 transcript variant X4 XM_011532867.3:c.1480T>C S [TCA] > P [CCA] Coding Sequence Variant
DNA mismatch repair protein Msh2 isoform X3 XP_011531169.1:p.Ser494Pro S (Ser) > P (Pro) Missense Variant
MSH2 transcript variant X2 XR_001738747.3:n.1516T>A N/A Non Coding Transcript Variant
MSH2 transcript variant X2 XR_001738747.3:n.1516T>C N/A Non Coding Transcript Variant
MSH2 transcript variant X5 XR_939685.3:n.1516T>A N/A Non Coding Transcript Variant
MSH2 transcript variant X5 XR_939685.3:n.1516T>C N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 232588 )
ClinVar Accession Disease Names Clinical Significance
RCV000219106.6 Hereditary cancer-predisposing syndrome Uncertain-Significance
RCV000475338.7 Hereditary nonpolyposis colorectal neoplasms Uncertain-Significance
RCV001589154.3 not provided Uncertain-Significance
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= A C
GRCh38.p14 chr 2 NC_000002.12:g.47463124= NC_000002.12:g.47463124T>A NC_000002.12:g.47463124T>C
GRCh37.p13 chr 2 NC_000002.11:g.47690263= NC_000002.11:g.47690263T>A NC_000002.11:g.47690263T>C
MSH2 RefSeqGene (LRG_218) NG_007110.2:g.65001= NG_007110.2:g.65001T>A NG_007110.2:g.65001T>C
MSH2 transcript variant 1 NM_000251.3:c.1480= NM_000251.3:c.1480T>A NM_000251.3:c.1480T>C
MSH2 transcript variant 1 NM_000251.2:c.1480= NM_000251.2:c.1480T>A NM_000251.2:c.1480T>C
MSH2 transcript variant 10 NM_001406638.1:c.1519= NM_001406638.1:c.1519T>A NM_001406638.1:c.1519T>C
MSH2 transcript variant 13 NM_001406641.1:c.1480= NM_001406641.1:c.1480T>A NM_001406641.1:c.1480T>C
MSH2 transcript variant 36 NM_001406669.1:c.124= NM_001406669.1:c.124T>A NM_001406669.1:c.124T>C
MSH2 transcript variant 28 NM_001406656.1:c.583= NM_001406656.1:c.583T>A NM_001406656.1:c.583T>C
MSH2 transcript variant 21 NM_001406649.1:c.1330= NM_001406649.1:c.1330T>A NM_001406649.1:c.1330T>C
MSH2 transcript variant 17 NM_001406645.1:c.1480= NM_001406645.1:c.1480T>A NM_001406645.1:c.1480T>C
MSH2 transcript variant 26 NM_001406654.1:c.1060= NM_001406654.1:c.1060T>A NM_001406654.1:c.1060T>C
MSH2 transcript variant 24 NM_001406652.1:c.1330= NM_001406652.1:c.1330T>A NM_001406652.1:c.1330T>C
MSH2 transcript variant 48 NR_176240.1:n.1516= NR_176240.1:n.1516T>A NR_176240.1:n.1516T>C
MSH2 transcript variant 59 NR_176230.1:n.1516= NR_176230.1:n.1516T>A NR_176230.1:n.1516T>C
MSH2 transcript variant 38 NM_001406674.1:c.1480= NM_001406674.1:c.1480T>A NM_001406674.1:c.1480T>C
MSH2 transcript variant 6 NM_001406634.1:c.1480= NM_001406634.1:c.1480T>A NM_001406634.1:c.1480T>C
MSH2 transcript variant 16 NM_001406644.1:c.1480= NM_001406644.1:c.1480T>A NM_001406644.1:c.1480T>C
MSH2 transcript variant 39 NR_176231.1:n.1516= NR_176231.1:n.1516T>A NR_176231.1:n.1516T>C
MSH2 transcript variant 23 NM_001406651.1:c.1330= NM_001406651.1:c.1330T>A NM_001406651.1:c.1330T>C
MSH2 transcript variant 57 NR_176249.1:n.1746= NR_176249.1:n.1746T>A NR_176249.1:n.1746T>C
MSH2 transcript variant 25 NM_001406653.1:c.1420= NM_001406653.1:c.1420T>A NM_001406653.1:c.1420T>C
MSH2 transcript variant 32 NM_001406660.1:c.124= NM_001406660.1:c.124T>A NM_001406660.1:c.124T>C
MSH2 transcript variant 33 NM_001406661.1:c.124= NM_001406661.1:c.124T>A NM_001406661.1:c.124T>C
MSH2 transcript variant 34 NM_001406662.1:c.124= NM_001406662.1:c.124T>A NM_001406662.1:c.124T>C
MSH2 transcript variant 43 NR_176235.1:n.1516= NR_176235.1:n.1516T>A NR_176235.1:n.1516T>C
MSH2 transcript variant 50 NR_176242.1:n.1516= NR_176242.1:n.1516T>A NR_176242.1:n.1516T>C
MSH2 transcript variant 31 NM_001406659.1:c.124= NM_001406659.1:c.124T>A NM_001406659.1:c.124T>C
MSH2 transcript variant 52 NR_176244.1:n.1516= NR_176244.1:n.1516T>A NR_176244.1:n.1516T>C
MSH2 transcript variant 40 NR_176232.1:n.1516= NR_176232.1:n.1516T>A NR_176232.1:n.1516T>C
MSH2 transcript variant 9 NM_001406637.1:c.1480= NM_001406637.1:c.1480T>A NM_001406637.1:c.1480T>C
MSH2 transcript variant 30 NM_001406658.1:c.124= NM_001406658.1:c.124T>A NM_001406658.1:c.124T>C
MSH2 transcript variant 49 NR_176241.1:n.1516= NR_176241.1:n.1516T>A NR_176241.1:n.1516T>C
MSH2 transcript variant 54 NR_176246.1:n.1516= NR_176246.1:n.1516T>A NR_176246.1:n.1516T>C
MSH2 transcript variant 15 NM_001406643.1:c.1480= NM_001406643.1:c.1480T>A NM_001406643.1:c.1480T>C
MSH2 transcript variant 7 NM_001406635.1:c.1480= NM_001406635.1:c.1480T>A NM_001406635.1:c.1480T>C
MSH2 transcript variant 12 NM_001406640.1:c.1480= NM_001406640.1:c.1480T>A NM_001406640.1:c.1480T>C
MSH2 transcript variant 2 NM_001258281.1:c.1282= NM_001258281.1:c.1282T>A NM_001258281.1:c.1282T>C
MSH2 transcript variant 55 NR_176247.1:n.1516= NR_176247.1:n.1516T>A NR_176247.1:n.1516T>C
MSH2 transcript variant 8 NM_001406636.1:c.1447= NM_001406636.1:c.1447T>A NM_001406636.1:c.1447T>C
MSH2 transcript variant 4 NM_001406632.1:c.1480= NM_001406632.1:c.1480T>A NM_001406632.1:c.1480T>C
MSH2 transcript variant 45 NR_176237.1:n.1516= NR_176237.1:n.1516T>A NR_176237.1:n.1516T>C
MSH2 transcript variant 47 NR_176239.1:n.1516= NR_176239.1:n.1516T>A NR_176239.1:n.1516T>C
MSH2 transcript variant 41 NR_176233.1:n.1358= NR_176233.1:n.1358T>A NR_176233.1:n.1358T>C
MSH2 transcript variant 53 NR_176245.1:n.1516= NR_176245.1:n.1516T>A NR_176245.1:n.1516T>C
MSH2 transcript variant 22 NM_001406650.1:c.1330= NM_001406650.1:c.1330T>A NM_001406650.1:c.1330T>C
MSH2 transcript variant 56 NR_176248.1:n.1516= NR_176248.1:n.1516T>A NR_176248.1:n.1516T>C
MSH2 transcript variant 46 NR_176238.1:n.1516= NR_176238.1:n.1516T>A NR_176238.1:n.1516T>C
MSH2 transcript variant 3 NM_001406631.1:c.1480= NM_001406631.1:c.1480T>A NM_001406631.1:c.1480T>C
MSH2 transcript variant 5 NM_001406633.1:c.1480= NM_001406633.1:c.1480T>A NM_001406633.1:c.1480T>C
MSH2 transcript variant 11 NM_001406639.1:c.1480= NM_001406639.1:c.1480T>A NM_001406639.1:c.1480T>C
MSH2 transcript variant 51 NR_176243.1:n.1366= NR_176243.1:n.1366T>A NR_176243.1:n.1366T>C
MSH2 transcript variant 14 NM_001406642.1:c.1480= NM_001406642.1:c.1480T>A NM_001406642.1:c.1480T>C
MSH2 transcript variant 20 NM_001406648.1:c.1480= NM_001406648.1:c.1480T>A NM_001406648.1:c.1480T>C
MSH2 transcript variant 58 NR_176250.1:n.1256= NR_176250.1:n.1256T>A NR_176250.1:n.1256T>C
MSH2 transcript variant 42 NR_176234.1:n.1516= NR_176234.1:n.1516T>A NR_176234.1:n.1516T>C
MSH2 transcript variant 44 NR_176236.1:n.1516= NR_176236.1:n.1516T>A NR_176236.1:n.1516T>C
MSH2 transcript variant 18 NM_001406646.1:c.1480= NM_001406646.1:c.1480T>A NM_001406646.1:c.1480T>C
MSH2 transcript variant 19 NM_001406647.1:c.1330= NM_001406647.1:c.1330T>A NM_001406647.1:c.1330T>C
MSH2 transcript variant 27 NM_001406655.1:c.1480= NM_001406655.1:c.1480T>A NM_001406655.1:c.1480T>C
MSH2 transcript variant 29 NM_001406657.1:c.1480= NM_001406657.1:c.1480T>A NM_001406657.1:c.1480T>C
MSH2 transcript variant X1 XM_005264332.5:c.1480= XM_005264332.5:c.1480T>A XM_005264332.5:c.1480T>C
MSH2 transcript variant X4 XM_011532867.3:c.1480= XM_011532867.3:c.1480T>A XM_011532867.3:c.1480T>C
MSH2 transcript variant X2 XR_001738747.3:n.1516= XR_001738747.3:n.1516T>A XR_001738747.3:n.1516T>C
MSH2 transcript variant X5 XR_939685.3:n.1516= XR_939685.3:n.1516T>A XR_939685.3:n.1516T>C
MSH2 transcript variant X1 XM_047444416.1:c.1480= XM_047444416.1:c.1480T>A XM_047444416.1:c.1480T>C
DNA mismatch repair protein Msh2 isoform 1 NP_000242.1:p.Ser494= NP_000242.1:p.Ser494Thr NP_000242.1:p.Ser494Pro
DNA mismatch repair protein Msh2 isoform 2 NP_001245210.1:p.Ser428= NP_001245210.1:p.Ser428Thr NP_001245210.1:p.Ser428Pro
DNA mismatch repair protein Msh2 isoform X1 XP_005264389.2:p.Ser494= XP_005264389.2:p.Ser494Thr XP_005264389.2:p.Ser494Pro
DNA mismatch repair protein Msh2 isoform X3 XP_011531169.1:p.Ser494= XP_011531169.1:p.Ser494Thr XP_011531169.1:p.Ser494Pro
DNA mismatch repair protein Msh2 isoform X1 XP_047300372.1:p.Ser494= XP_047300372.1:p.Ser494Thr XP_047300372.1:p.Ser494Pro
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#.

11 SubSNP, 6 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGM_KYOTO ss76862985 Dec 06, 2007 (129)
2 1000GENOMES ss1297053523 Aug 21, 2014 (142)
3 EVA_EXAC ss1686299853 Apr 01, 2015 (144)
4 GNOMAD ss2732652425 Nov 08, 2017 (151)
5 GNOMAD ss2746676429 Nov 08, 2017 (151)
6 GNOMAD ss2772946153 Nov 08, 2017 (151)
7 EVA ss5236970299 Apr 26, 2021 (155)
8 EVA ss5328634328 Oct 12, 2022 (156)
9 1000G_HIGH_COVERAGE ss5523028469 Oct 12, 2022 (156)
10 EVA ss5930177985 Oct 12, 2022 (156)
11 EVA ss5935567390 Oct 12, 2022 (156)
12 1000Genomes NC_000002.11 - 47690263 Oct 11, 2018 (152)
13 1000Genomes_30x NC_000002.12 - 47463124 Oct 12, 2022 (156)
14 ExAC NC_000002.11 - 47690263 Oct 11, 2018 (152)
15 gnomAD - Genomes NC_000002.12 - 47463124 Apr 26, 2021 (155)
16 gnomAD - Exomes NC_000002.11 - 47690263 Jul 13, 2019 (153)
17 ALFA NC_000002.12 - 47463124 Apr 26, 2021 (155)
18 ClinVar RCV000219106.6 Oct 12, 2022 (156)
19 ClinVar RCV000475338.7 Apr 26, 2021 (155)
20 ClinVar RCV001589154.3 Oct 12, 2022 (156)
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
ss5935567390 NC_000002.11:47690262:T:A NC_000002.12:47463123:T:A
7992507, 6169452, 1700877, ss1297053523, ss1686299853, ss2732652425, ss2746676429, ss2772946153, ss5328634328 NC_000002.11:47690262:T:C NC_000002.12:47463123:T:C (self)
RCV000219106.6, RCV000475338.7, RCV001589154.3, 10554404, 56715861, 6684766101, ss5236970299, ss5523028469, ss5930177985 NC_000002.12:47463123:T:C NC_000002.12:47463123:T:C (self)
ss76862985 NT_022184.15:26512149:T:C NC_000002.12:47463123:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs55653533
PMID Title Author Year Journal
26900293 Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients. Chang YC et al. 2016 World journal of gastroenterology
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.

Software version is: 2.0.1.post761+d5e8e07