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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.

rs28940571

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:42693200 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000053 (14/264690, TOPMED)
A=0.000050 (7/140256, GnomAD)
A=0.00000 (0/16212, ALFA) (+ 2 more)
A=0.0002 (1/6404, 1000G_30x)
A=0.0002 (1/5008, 1000G)
Clinical Significance
Reported in ClinVar
Gene : Consequence
A4GALT : 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 16212 G=1.00000 A=0.00000
European Sub 11310 G=1.00000 A=0.00000
African Sub 3324 G=1.0000 A=0.0000
African Others Sub 114 G=1.000 A=0.000
African American Sub 3210 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 612 G=1.000 A=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
TopMed Global Study-wide 264690 G=0.999947 A=0.000053
gnomAD - Genomes Global Study-wide 140256 G=0.999950 A=0.000050
gnomAD - Genomes European Sub 75944 G=0.99995 A=0.00005
gnomAD - Genomes African Sub 42048 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13660 G=0.99985 A=0.00015
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 16212 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 11310 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 3324 G=1.0000 A=0.0000
Allele Frequency Aggregator Other Sub 612 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 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
1000Genomes_30x Global Study-wide 6404 G=0.9998 A=0.0002
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.999 A=0.001
1000Genomes Global Study-wide 5008 G=0.9998 A=0.0002
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.999 A=0.001
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 22 NC_000022.11:g.42693200G>A
GRCh38.p14 chr 22 NC_000022.11:g.42693200G>T
GRCh37.p13 chr 22 NC_000022.10:g.43089206G>A
GRCh37.p13 chr 22 NC_000022.10:g.43089206G>T
P1PK blood group RefSeqGene (LRG_795) NG_007495.2:g.33102C>T
P1PK blood group RefSeqGene (LRG_795) NG_007495.2:g.33102C>A
Gene: A4GALT, alpha 1,4-galactosyltransferase (P blood group) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
A4GALT transcript variant 1 NM_017436.7:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase NP_059132.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant 1 NM_017436.7:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase NP_059132.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant 2 NM_001318038.3:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase NP_001304967.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant 2 NM_001318038.3:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase NP_001304967.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant 3 NR_146459.3:n. N/A Genic Downstream Transcript Variant
A4GALT transcript variant X1 XM_006724265.4:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724328.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X1 XM_006724265.4:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724328.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X2 XM_006724266.4:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724329.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X2 XM_006724266.4:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724329.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X3 XM_005261646.5:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261703.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X3 XM_005261646.5:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261703.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X4 XM_005261644.3:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261701.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X4 XM_005261644.3:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261701.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X5 XM_011530233.3:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_011528535.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X5 XM_011530233.3:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_011528535.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X6 XM_017028831.2:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_016884320.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X6 XM_017028831.2:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_016884320.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X7 XM_047441412.1:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_047297368.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X7 XM_047441412.1:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_047297368.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X8 XM_005261647.4:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261704.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X8 XM_005261647.4:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261704.1:p.Pro251Gln P (Pro) > Q (Gln) Missense Variant
A4GALT transcript variant X9 XM_005261648.5:c.752C>T P [CCG] > L [CTG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261705.1:p.Pro251Leu P (Pro) > L (Leu) Missense Variant
A4GALT transcript variant X9 XM_005261648.5:c.752C>A P [CCG] > Q [CAG] Coding Sequence Variant
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261705.1:p.Pro251Gln P (Pro) > Q (Gln) 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.

Allele: A (allele ID: 17732 )
ClinVar Accession Disease Names Clinical Significance
RCV000002812.3 p phenotype Affects
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 T
GRCh38.p14 chr 22 NC_000022.11:g.42693200= NC_000022.11:g.42693200G>A NC_000022.11:g.42693200G>T
GRCh37.p13 chr 22 NC_000022.10:g.43089206= NC_000022.10:g.43089206G>A NC_000022.10:g.43089206G>T
P1PK blood group RefSeqGene (LRG_795) NG_007495.2:g.33102= NG_007495.2:g.33102C>T NG_007495.2:g.33102C>A
A4GALT transcript variant 1 NM_017436.7:c.752= NM_017436.7:c.752C>T NM_017436.7:c.752C>A
A4GALT transcript variant 1 NM_017436.6:c.752= NM_017436.6:c.752C>T NM_017436.6:c.752C>A
A4GALT transcript variant 1 NM_017436.5:c.752= NM_017436.5:c.752C>T NM_017436.5:c.752C>A
A4GALT transcript NM_017436.4:c.752= NM_017436.4:c.752C>T NM_017436.4:c.752C>A
A4GALT transcript variant 2 NM_001318038.3:c.752= NM_001318038.3:c.752C>T NM_001318038.3:c.752C>A
A4GALT transcript variant 2 NM_001318038.2:c.752= NM_001318038.2:c.752C>T NM_001318038.2:c.752C>A
A4GALT transcript variant 2 NM_001318038.1:c.752= NM_001318038.1:c.752C>T NM_001318038.1:c.752C>A
A4GALT transcript variant X3 XM_005261646.5:c.752= XM_005261646.5:c.752C>T XM_005261646.5:c.752C>A
A4GALT transcript variant X6 XM_005261646.4:c.752= XM_005261646.4:c.752C>T XM_005261646.4:c.752C>A
A4GALT transcript variant X7 XM_005261646.3:c.752= XM_005261646.3:c.752C>T XM_005261646.3:c.752C>A
A4GALT transcript variant X4 XM_005261646.2:c.752= XM_005261646.2:c.752C>T XM_005261646.2:c.752C>A
A4GALT transcript variant X4 XM_005261646.1:c.752= XM_005261646.1:c.752C>T XM_005261646.1:c.752C>A
A4GALT transcript variant X9 XM_005261648.5:c.752= XM_005261648.5:c.752C>T XM_005261648.5:c.752C>A
A4GALT transcript variant X5 XM_005261648.4:c.752= XM_005261648.4:c.752C>T XM_005261648.4:c.752C>A
A4GALT transcript variant X5 XM_005261648.3:c.752= XM_005261648.3:c.752C>T XM_005261648.3:c.752C>A
A4GALT transcript variant X6 XM_005261648.2:c.752= XM_005261648.2:c.752C>T XM_005261648.2:c.752C>A
A4GALT transcript variant X6 XM_005261648.1:c.752= XM_005261648.1:c.752C>T XM_005261648.1:c.752C>A
A4GALT transcript variant X2 XM_006724266.4:c.752= XM_006724266.4:c.752C>T XM_006724266.4:c.752C>A
A4GALT transcript variant X2 XM_006724266.3:c.752= XM_006724266.3:c.752C>T XM_006724266.3:c.752C>A
A4GALT transcript variant X3 XM_006724266.2:c.752= XM_006724266.2:c.752C>T XM_006724266.2:c.752C>A
A4GALT transcript variant X8 XM_006724266.1:c.752= XM_006724266.1:c.752C>T XM_006724266.1:c.752C>A
A4GALT transcript variant X1 XM_006724265.4:c.752= XM_006724265.4:c.752C>T XM_006724265.4:c.752C>A
A4GALT transcript variant X1 XM_006724265.3:c.752= XM_006724265.3:c.752C>T XM_006724265.3:c.752C>A
A4GALT transcript variant X2 XM_006724265.2:c.752= XM_006724265.2:c.752C>T XM_006724265.2:c.752C>A
A4GALT transcript variant X7 XM_006724265.1:c.752= XM_006724265.1:c.752C>T XM_006724265.1:c.752C>A
A4GALT transcript variant X8 XM_005261647.4:c.752= XM_005261647.4:c.752C>T XM_005261647.4:c.752C>A
A4GALT transcript variant X4 XM_005261647.3:c.752= XM_005261647.3:c.752C>T XM_005261647.3:c.752C>A
A4GALT transcript variant X4 XM_005261647.2:c.752= XM_005261647.2:c.752C>T XM_005261647.2:c.752C>A
A4GALT transcript variant X5 XM_005261647.1:c.752= XM_005261647.1:c.752C>T XM_005261647.1:c.752C>A
A4GALT transcript variant X5 XM_011530233.3:c.752= XM_011530233.3:c.752C>T XM_011530233.3:c.752C>A
A4GALT transcript variant X7 XM_011530233.2:c.752= XM_011530233.2:c.752C>T XM_011530233.2:c.752C>A
A4GALT transcript variant X8 XM_011530233.1:c.752= XM_011530233.1:c.752C>T XM_011530233.1:c.752C>A
A4GALT transcript variant X4 XM_005261644.3:c.752= XM_005261644.3:c.752C>T XM_005261644.3:c.752C>A
A4GALT transcript variant X3 XM_005261644.2:c.752= XM_005261644.2:c.752C>T XM_005261644.2:c.752C>A
A4GALT transcript variant X4 XM_005261644.1:c.752= XM_005261644.1:c.752C>T XM_005261644.1:c.752C>A
A4GALT transcript variant X6 XM_017028831.2:c.752= XM_017028831.2:c.752C>T XM_017028831.2:c.752C>A
A4GALT transcript variant X8 XM_017028831.1:c.752= XM_017028831.1:c.752C>T XM_017028831.1:c.752C>A
A4GALT transcript variant X7 XM_047441412.1:c.752= XM_047441412.1:c.752C>T XM_047441412.1:c.752C>A
lactosylceramide 4-alpha-galactosyltransferase NP_059132.1:p.Pro251= NP_059132.1:p.Pro251Leu NP_059132.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase NP_001304967.1:p.Pro251= NP_001304967.1:p.Pro251Leu NP_001304967.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261703.1:p.Pro251= XP_005261703.1:p.Pro251Leu XP_005261703.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261705.1:p.Pro251= XP_005261705.1:p.Pro251Leu XP_005261705.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724329.1:p.Pro251= XP_006724329.1:p.Pro251Leu XP_006724329.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_006724328.1:p.Pro251= XP_006724328.1:p.Pro251Leu XP_006724328.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261704.1:p.Pro251= XP_005261704.1:p.Pro251Leu XP_005261704.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_011528535.1:p.Pro251= XP_011528535.1:p.Pro251Leu XP_011528535.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_005261701.1:p.Pro251= XP_005261701.1:p.Pro251Leu XP_005261701.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_016884320.1:p.Pro251= XP_016884320.1:p.Pro251Leu XP_016884320.1:p.Pro251Gln
lactosylceramide 4-alpha-galactosyltransferase isoform X1 XP_047297368.1:p.Pro251= XP_047297368.1:p.Pro251Leu XP_047297368.1:p.Pro251Gln
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#.

19 SubSNP, 9 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 OMICIA ss169696744 Aug 28, 2012 (137)
2 OMIM-CURATED-RECORDS ss254223354 Aug 19, 2010 (132)
3 1000GENOMES ss466206869 Sep 17, 2011 (135)
4 NHLBI-ESP ss713629464 Apr 25, 2013 (138)
5 1000GENOMES ss1367354686 Aug 21, 2014 (142)
6 EVA_EXAC ss1694384244 Apr 01, 2015 (144)
7 EVA_EXAC ss1694384245 Apr 01, 2015 (144)
8 GNOMAD ss2745199126 Nov 08, 2017 (151)
9 GNOMAD ss2750574181 Nov 08, 2017 (151)
10 GNOMAD ss2974948529 Nov 08, 2017 (151)
11 AFFY ss2985240699 Nov 08, 2017 (151)
12 ILLUMINA ss3654008964 Oct 12, 2018 (152)
13 ILLUMINA ss3725972925 Jul 13, 2019 (153)
14 EVA ss3825455753 Apr 27, 2020 (154)
15 EVA ss3825972950 Apr 27, 2020 (154)
16 TOPMED ss5110942622 Apr 26, 2021 (155)
17 EVA ss5441616970 Oct 16, 2022 (156)
18 1000G_HIGH_COVERAGE ss5618909717 Oct 16, 2022 (156)
19 EVA ss5882011626 Oct 16, 2022 (156)
20 1000Genomes NC_000022.10 - 43089206 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000022.11 - 42693200 Oct 16, 2022 (156)
22 ExAC

Submission ignored due to conflicting rows:
Row 5967913 (NC_000022.10:43089205:G:G 70493/70496, NC_000022.10:43089205:G:A 3/70496)
Row 5967914 (NC_000022.10:43089205:G:G 70495/70496, NC_000022.10:43089205:G:T 1/70496)

- Oct 12, 2018 (152)
23 ExAC

Submission ignored due to conflicting rows:
Row 5967913 (NC_000022.10:43089205:G:G 70493/70496, NC_000022.10:43089205:G:A 3/70496)
Row 5967914 (NC_000022.10:43089205:G:G 70495/70496, NC_000022.10:43089205:G:T 1/70496)

- Oct 12, 2018 (152)
24 gnomAD - Genomes NC_000022.11 - 42693200 Apr 26, 2021 (155)
25 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14532138 (NC_000022.10:43089205:G:G 224614/224636, NC_000022.10:43089205:G:A 22/224636)
Row 14532139 (NC_000022.10:43089205:G:G 224635/224636, NC_000022.10:43089205:G:T 1/224636)

- Jul 13, 2019 (153)
26 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14532138 (NC_000022.10:43089205:G:G 224614/224636, NC_000022.10:43089205:G:A 22/224636)
Row 14532139 (NC_000022.10:43089205:G:G 224635/224636, NC_000022.10:43089205:G:T 1/224636)

- Jul 13, 2019 (153)
27 TopMed NC_000022.11 - 42693200 Apr 26, 2021 (155)
28 ALFA NC_000022.11 - 42693200 Apr 26, 2021 (155)
29 ClinVar RCV000002812.3 Oct 12, 2018 (152)
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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
80913820, ss466206869, ss713629464, ss1367354686, ss1694384244, ss2745199126, ss2750574181, ss2974948529, ss2985240699, ss3654008964, ss3825455753, ss3825972950, ss5441616970 NC_000022.10:43089205:G:A NC_000022.11:42693199:G:A (self)
RCV000002812.3, 106435652, 571406319, 386051569, 2550188638, ss169696744, ss254223354, ss3725972925, ss5110942622, ss5618909717, ss5882011626 NC_000022.11:42693199:G:A NC_000022.11:42693199:G:A (self)
ss1694384245, ss2745199126 NC_000022.10:43089205:G:T NC_000022.11:42693199:G:T (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.

1 citation for rs28940571
PMID Title Author Year Journal
11782470 Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins. Furukawa K et al. 2002 The Journal of biological chemistry
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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.post761+d5e8e07