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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3757370          
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NG_008601.1:g.73510A>G
NM_020320.2:c.991A>G
NM_020320.3:c.991A>G
NP_064716.1:p.Ile331Val
NP_064716.2:p.Ile331Val
NT_007299.12:g.26051397T>C
Links , Linkout

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 ss48427219 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3757370 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
ss4943402YUSUKE|IMS-JST110599byFreqfwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg08/01/0210/10/03107Genomicunknown
ss12786121SC_SNP|NT_007299.12_26051397fwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg10/21/0310/31/03119Genomicunknown
ss24016366PERLEGEN|afd0342032byFreqfwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg08/10/0409/13/04123Genomicunknown
ss48427219APPLERA_GI|hCV25751271byFreqrev/TA/Gccactttgtttcagagatcttgcagctgcttagatcgaatggacaagtataattttgata09/28/0511/03/06126Genomicunknown
ss68983003PERLEGEN|PGP00342032byFreqfwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg01/30/0703/31/08127Genomicunknown
ss74809848AFFY|SNP_M-182763fwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg08/09/0708/09/07128Genomicunknown
ss74856999ILLUMINA|ILMN_Human_1M_rs3757370fwd/BC/Ttatcaaaattatacttgtccattcgatctaagcagctgcaagatctctgaaacaaagtgg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3757370|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 TGGTATTATA GTGACCTGTA TATATTAATT TCACATAACC ATCTTACTGA TTCAGGTAAT
 TTTTTCTTAC TATGAAGCAA TGTAAACTTT TTCATTTTTA AGTGTTTAAA CTTTTAAATA
 GAAGTTGCCC ACTTTAAACA TACTTAATGT TGACTTCTCT CTGTAGTTTT CCATAGTTTT
 TCAACATGGC ATCCAATTTC TACCTCTGTA GTTTTCATGA GTTAAGAGAT CATAACTTTT
 TGTTCTGATT ACTTACCACA TATATCATTG TATCAAAATT ATACTTGTCC ATTCGATCTA
 Y
 AGCAGCTGCA AGATCTCTGA AACAAAGTGG CCATAAACCA AGAGTTACTA AGCAGATCCG
 GGTAATAATT GGTCTTACCT ATTTAATAGC AATGAGCATT TTCTAATTAA GAATTTAAAT
 TATACCACAG CCTGAGGAAT TCCACCCACA CTTAGATAAT CCGAATATCA TGTTTTGATA
 TAAAATGATA AAAATAGGTT TGGGAAAAAC AACAATAAAA ACACTGGGAA AAGCAAAACC
 TAAAATAAAT ATAAATAAAT AAAATTAATA CATAAAAGTT CTACAACAAG TAGTAATAAC

  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_007634.1
dbSNP Blast Analysis
UniGene Cluster ID
485910

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss24016366 AFD_EUR_PANEL European 48 IG 0.042 0.958 1.000 0.021 0.979
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 48 IG 0.125 0.875 0.752 0.062 0.938
ss48427219 HapMap-CEU European 120 IG 0.017 0.983 1.000 0.008 0.992
HapMap-HCB Asian 90 IG 0.022 0.222 0.756 1.000 0.133 0.867
HapMap-JPT Asian 88 IG 0.023 0.182 0.795 0.527 0.114 0.886
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
AGI_ASP population multiple 78 IG 0.026 0.974 1.000 0.013 0.987
ss4943402 JBIC-allele 1444 AF 0.109 0.891
ss68983003 HapMap-CEU European 120 GF 0.017 0.983 0.008 0.992
HapMap-HCB Asian 90 GF 0.022 0.222 0.756 0.133 0.867
HapMap-JPT Asian 90 GF 0.022 0.178 0.800 0.111 0.889
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.092+/-0.194 964 808 276 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 .