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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3811679          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:107/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001015050.1:c.476T>C
NP_001015050.1:p.Ile159Thr
NR_024250.1:c.1359A>G
NR_024251.1:c.1457A>G
NT_005612.15:g.32143429A>G
XR_037841.1:c.860C>T
XR_040853.1:c.1742G>A
XR_041463.1:c.1834G>A
XR_041464.1:c.1837A>G
XR_041465.1:c.1833A>G
Links

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss41892079 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3811679 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
ss4998086YUSUKE|IMS-JST171610byFreqfwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca08/12/0211/22/03107Genomicunknown
ss13481225WI_SSAHASNP|chr3.NT_005612.14_32143437fwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca10/31/0311/10/03120Genomicunknown
ss13572403BCM_SSAHASNP|chr3.NT_005612.14_32143437fwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca11/05/0311/22/03120Genomicunknown
ss22024605SSAHASNP|WGSA-200403-chr3.chr3.NT_005612.14_32143437fwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca03/20/0403/20/04123Genomicunknown
ss22979416BCM_SSAHASNP|BCM_HTWB_SNPS_200403.chr3.NT_005612.14_32143437fwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca03/22/0403/22/04123Genomicunknown
ss41892079ABI|hCV32860787byFreqfwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca07/17/0511/03/06126Genomicunknown
ss74816566AFFY|SNP_M-313178fwd/TA/Gcggggttttagcctctggcccaggagttgttgtccataaccaaagggagcacagtctgca08/09/0708/09/07128Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3811679|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=128
 TAAGGAGTAC TGCAGAGGTC ACAGGGAAGT CACAGAACAG TAATACGCTA GCAGGGGCAT
 GGGGCATGAA GAACAGAAGA AGAGAGGAAG TGTTTCCGAG CCTCCGGAAA AGAAATCAGA
 GCCAAGCACA GCTTCCCGGG TCACAGAACC AATTCATTCA CCAGGCGGCA CCACTGCCGT
 CATTTCAGCT TCTGGCCACT GGGAGGCGCT GCTCAAAAGG GTTTGCCCTG AGACTCCGAG
 AAGAAGCTGC GGGAAGGACA GCAGGGGTCC CGGGGTTTTA GCCTCTGGCC CAGGAGTTGT
 R
 TGTCCATAAC CAAAGGGAGC ACAGTCTGCA CCCAGCTCTC ATCCCATCGG AGCTGCTGCG
 ACTCCCGCAG GTTCTTCCAA AACTGGTTTA GCTTGCCTGC AGGATCAGGA AAGTTTGAGA
 AAAGCATCTG CAAAAAAATA AAGAGCAGAG CTTACCTCAT TGCCTGTCCC CACCCCATCC
 CAGGTCACCA CCTGGCTGAC CCCAGGTCCC CGACCCAACA ACAACCCCTC CCAAGTTCCT
 AACTCTCTCA CTTGGACTCG AGACTCTTCA CGCCCCAGCA GCGCTCCGCC TCCAACTTGA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

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

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

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


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_022411.6
dbSNP Blast Analysis
UniGene Cluster ID
553949

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss41892079 HapMap-CEU European 120 IG 0.767 0.217 0.017 1.000 0.875 0.125
HapMap-HCB Asian 90 IG 0.867 0.111 0.022 0.150 0.922 0.078
HapMap-JPT Asian 90 IG 0.711 0.289 0.856 0.144
HapMap-YRI Sub-Saharan African 120 IG 0.183 0.583 0.233 0.200 0.475 0.525
ss4998086 JBIC-allele 1310 AF 0.882 0.118

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.358+/-0.226 525 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .