Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs4675690          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
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 ss82033262 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4675690 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
ss6438268WI_SSAHASNP|NT_005403.11_8956745fwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt02/12/0310/10/03111Genomicunknown
ss21604133SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_58717223byFreqfwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt03/20/0405/17/04121Genomicunknown
ss82033262HGSV|Cor19240_SNV_20070510.chr2_208333313fwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt11/30/0712/02/07130Genomicunknown
ss91523081BCMHGSC_JDW|JWB-1374515fwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt02/26/0803/01/08129Genomicunknown
ss97116126HUMANGENOME_JCVI|1103658347984fwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt03/28/0803/28/08130Genomicunknown
ss1115642561000GENOMES|NA19240_2008_12_16_510159_chr2_208216052fwd/BC/Ttgtgttagatgctgaaacacaaaaaaagaagaaacagaacagatcagacaaaaaagtatt12/16/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4675690|allelePos=501|totalLen=713|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GCACAAACCT GGGAGGCGGA GCTTGCAGTG AGCCGAGTTA GCACCACTGC ACTCCAGCCT
 GGGTGACAGA GTGAGACCCC TTCTCAAAAA AAAAAAAAAA ATGCTTGTTA TTCAAACACA
 GTTTTTTTTT TTTTGAGATG GAGTTTCACT CTGTCACCCA GGCTGGAGTG CAGTGGTGCG
 ATCTCAGCTC ACTGCAACTT CTACCTCCTG GGTTCAAGCA ATTCTCCTGC CTCAACCTCC
 TGAGTAGCTA GGACTACAGG CGTGAGCCAC TATACCTGAC TAATTTTTGT ATTTTTAGTA
 GAGATGGGGT TTCACTATGT TGGGCAGGCT GGTCTCGAAC TCCTGACCTC AAGCAATCTG
 CCCGCCTTGG CCTCCCAAAG TGCTGGGATT ATAGGCGTGA GTCACCATGC CCGGCCTCAA
 ACACATTTTT TCTATCCATA TTTACTGGGT GTCTTTTATC AAGCAGATTC TGTGTTAGAT
 GCTGAAACAC AAAAAAAGAA
 Y
 GAAACAGAAC AGATCAGACA AAAAAGTATT GGGAAACATA CCCATCATTT CTTCCTCCTT
 CATGAATGTT TTTCAAGGAT GATTCTAGAA GGAACTAGAG GAGTAGGTAA CAGCAGCATT
 GATGGAAGAT TCTGAGAGGC AGTAAGTCAC ATCTAAGGAA CTCTAGCCAA CTGAAAATAA
 GTTATTTATC TAGTATTAAA AAGCATCTTC AG

  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_005403 ABBA01062684
dbSNP Blast Analysis

  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
ss21604133 HapMap-CEU European 120 IG 0.333 0.533 0.133 0.403 0.600 0.400
HapMap-HCB Asian 90 IG 0.089 0.556 0.356 0.200 0.367 0.633
HapMap-JPT Asian 88 IG 0.114 0.341 0.545 0.294 0.284 0.716
HapMap-YRI Sub-Saharan African 120 IG 0.300 0.350 0.350 0.025 0.475 0.525

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.494+/-0.052 526 409 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .