NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs2943772                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:101/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:G=0.0000/0 (1000 Genomes)
G=0.00003/4 (TOPMED)
HGVS Names
  • CM000672.2:g.87864144G>C
  • NC_000010.10:g.89623901G>C
  • NC_000010.11:g.87864144G>C
  • NG_007466.2:g.5706C=
  • NG_007466.2:g.5706C>G
  • NG_033079.1:g.4294C>G
  • NM_000314.4:c.-326C=
  • NM_000314.4:c.-326C>G
  • NM_000314.6:c.-326C=
  • NM_000314.6:c.-326C>G
  • NM_001126049.1:c.-1657C>G
  • NM_001304717.2:c.194C=
  • NM_001304717.2:c.194C>G
  • NM_001304718.1:c.-1031C=
  • NM_001304718.1:c.-1031C>G
  • NP_001291646.2:p.Ser65=
  • NP_001291646.2:p.Ser65Cys
  • NP_001291646.2:p.Ser?=
  • NP_001291646.2:p.Ser?Cys
  • NW_013171807.1:g.79967C=
  • NW_013171807.1:g.79967C>G
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss97573551 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2943772 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss4150082SC_JCM|AC063965.7_184617fwd/BC/Ggcccgggccacggggggtgcggcggcggcgacgggaggtttaaaaccggcccgggtccct10/15/0110/10/03101Genomicunknown
ss16510258CSHL-HAPMAP|CSHL-HuAA-200402.chr10.NT_030059.11_8372417rev/TC/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc02/17/0403/04/04120Genomicunknown
ss97573551HUMANGENOME_JCVI|1103694015480rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc03/29/0803/29/08130Genomicunknown
ss137902086ENSEMBL|ENSSNP462652rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc12/08/0810/16/09131Genomicunknown
ss170681872COMPLETE_GENOMICS|NA19240_36_chr10_89613881rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc10/01/0910/04/09132Genomicunknown
ss201828121BUSHMAN|BUSHMAN-chr10-89613880rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc02/16/1003/08/10132Genomicunknown
ss207485916BCM-HGSC-SUB|BCM_CMT_1011-2119014rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc03/15/1003/19/10132Genomicunknown
ss254496872BL|SNP104981_10_89613881rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc08/19/1008/19/10134Genomicunknown
ss290890260PJP|SNP_396618_chr10_89613881rev/C/Gagggacccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcccgggc01/21/1101/21/11134Genomicunknown
ss657122679SSMP|10_89623901rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc12/14/1202/12/15138Genomicunknown
ss13384370571000GENOMES|PHASE3_V1_51131682rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc08/16/1408/16/14142Genomicunknown
ss1426397429DDI|DDI_rs2943772rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc11/04/1411/04/14144Genomicunknown
ss1575269150EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2943772rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc02/19/1502/19/15144Genomicunknown
ss1806500650HAMMER_LAB|Hsieh_5519101rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc07/15/1507/16/15146Genomicunknown
ss2026288826JJLAB|SNP6791381rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc08/29/1608/30/16149Genomicunknown
ss2154564359USC_VALOUEV|NC_000010.10:g.89623901G>Crev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc11/17/1611/17/16150Genomicunknown
ss2176762849HUMAN_LONGEVITY|HLI-10-87864144-G-Crev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc11/18/1611/18/16150Genomicunknown
ss2698815669GRF|rs2943772rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc02/13/1702/13/17151Genomicunknown
ss3006888888SWEGEN|NC_000010.10:g.89623901G>Crev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc05/30/1705/30/17151Genomicunknown
ss3126304269TOPMED|TOPMed_freeze_5?chr10:87,864,144rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc09/29/1709/29/17151Genomicunknown
ss3349240369CSHL|rs2943772rev/C/Gcccgggccggttttaaacctcccgtcgccgccgccgcaccccccgtggcc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2943772|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 GATGGAAATG GCTCTGGACT TGGCGGTAGC TGATGCCCCT CGCTCTGCCG CCGCTTGGCT
 CTGGACCGCA GCCGGGTAAT GGCTGCTGCG GCGGCTGCTG GATGGTTGCA GCGACTGGGC
 CTGCTTCTCC TCAGCAGCCA GAGGCCTGGC AGCGGCGGCA GCGGAATGGG GAGAAGACGA
 ATAATCCTCC GAACGGCTGC CTCCGCCGGC GGCCTCCGGA GCCCGGGCCA CGGGGGGTGC
 GGCGGCGGCG
 S
 ACGGGAGGTT TAAAACCGGC CCGGGTCCCT GGATGTGCCG CCGCCGCCGC CGCCGTGTTG
 GAGGCAGTAG AAGGGGAGAG ACCAACTCTC CGGCGTTCCC AGCCCTGGAA ATGGTGACAG
 GCGACTCAGA CCCCCTCCCT GGAGCTGCAG CCGCCGCGGC CGCCGCCGCC GCCGCTTCTC
 CCCCCCGCTC CAGGAGCGGG AGGTGCCGCC GCCGCCGCCG CGCCTCAGCC GGCTCCCGCC
 CGAGCCCACG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030059 ABBA01021960 AF067844
dbSNP Blast Analysis
UniGene Cluster ID
500466

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2943772 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
HWPC
G
ss1338437057EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss137902086ENSEMBL_Venter 2IG1.00000000 1.00000000
ENSEMBL_celera 2IG1.00000000 1.00000000
ss170681872YRISub-Saharan African 2IG1.00000000 1.00000000
ss97573551J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN