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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3758581          
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:A
Clinical Association:unknown
HGVS Names
NG_008384.1:g.85161A>G
NM_000769.1:c.991A>G
NP_000760.1:p.Ile331Val
NT_030059.12:g.15351149G>A
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 ss71645826 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3758581 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
ss4944613YUSUKE|IMS-JST111901fwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg08/01/0205/28/04107Genomicunknown
ss28531457EGP_SNPS|CYP2C19-082167byFreqfwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg11/08/0401/27/05126Genomicunknown
ss32475267BIOVENTURES|BV07020fwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg12/10/04125Genomicunknown
ss71645826SI_EXO|NT_030059.12_15351149byFreqfwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg05/07/0703/31/08127Genomicunknown
ss76860183CGM_KYOTO|228fwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg09/12/0709/12/07129cDNAunknown
ss79314157CCHMC-CAE-PGCORE|CYP2C19_80161G>Afwd/TA/Ggctaaagtccaggaagagattgaacgtgtcttggcagaaaccggagcccctgcatgcagg11/20/0711/20/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3758581|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TTGGAAATTT TAGTCCATTT ACATTCAGTG TTATTATTAA GTAAGGACTT ACTTCTGCCT
 TTTTGTTATT TGTTTACTGG TTGTTTTGTG GGCTTCTCTT CCTTCTTTCA TTTCTTCCTG
 CCTTCCTTTA TTGATAATAA TTTTCTCTGC ATATATGTGT ACAGATTTTT CTTAATGCCT
 AGCTTAAGGC ACAGTTACAC ATTTGTGCAT CTGTAGCAGT CCTCTCTTTA AGTTACACAT
 ACTTCCAGCA CTATAATTTA AATTTATTAT GATGTTTGGA TACCTTCATC ATGATTCATG
 TACCCCTGAA TTGCTAGAAC AAATGTTCCA TTTCTCTCCT TTTCCATCAG TTCTTACTTG
 TGTCTTGTCA GCTAAAGTCC AGGAAGAGAT TGAACGTGTC
 R
 TTGGCAGAAA CCGGAGCCCC TGCATGCAGG ACAGGGGCCA CATGCCCTAC ACAGATGCTG
 TGGTGCACGA GGTCCAGAGA TACATCGACC TCATCCCCAC CAGCCTGCCC CATGCAGTGA
 CCTGTGACGT TAAATTCAGA AACTACCTCA TTCCCAAGGT AAGTTTGTTT CTCCTACACT
 GCAACTCCAT GTTCTTTTAT TCCTCAAATT CACAGTATGA TTCTTACCCT CTACCATCAC
 TGGGTGAGAG AAGTGCATTA CTCCTATGTA TGGCAGTTTA ATTGGACTTT CTGTTGATTC
 CAGTTTGGGA CTATAAAGAT TTGTAACAGG TCTTAGTGTC TCACAGTGTG TGTTTTTCAG
 ATTTATTCTT TCTTCAAGAT TGTTCTGGCT ACTCTTAAGT

  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_030059.12
dbSNP Blast Analysis
UniGene Cluster ID
282409

  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
ss28531457 PDR90 Global 178 IG 0.079 0.921 0.752 0.039 0.961
HapMap-CEU European 118 IG 0.102 0.898 0.655 0.051 0.949
HapMap-HCB Asian 90 IG 0.022 0.089 0.889 0.752 0.067 0.933
HapMap-JPT Asian 88 IG 0.023 0.159 0.818 0.527 0.102 0.898
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
ss71645826 HapMap-CEU European 118 IG 0.102 0.898 0.051 0.949
HapMap-HCB Asian 90 IG 0.022 0.089 0.889 0.067 0.933
HapMap-JPT Asian 88 IG 0.023 0.159 0.818 0.102 0.898
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.092+/-0.194 615 499 0 0 ALFRED: The Allele Frequency Database

  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 YES

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Revised: May 25, 2006 1:38 PM .