NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs4764541          
refSNP ID: rs4764541
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
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_001769.2:c.66+3680A>G
NT_009759.15:g.6167672A>G
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 ss12192238 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4764541 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
ss6572012WI_SSAHASNP|NT_009731.13_460780fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata02/12/0310/10/03111Genomicunknown
ss12192238WI_SSAHASNP|chr12.NT_009759.15_6167672byFreqfwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata07/04/0310/25/06116Genomicunknown
ss15517095SC_SNP|NT_009759.15_6167672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata11/14/0311/22/03120Genomicunknown
ss16339198PGA-UW-FHCRC|CD9-005775byFreqfwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata12/19/0304/07/04120Genomicunknown
ss20938396SSAHASNP|WGSA-200403-chr12.chr12.NT_009759.15_6167672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata03/19/0403/19/04121Genomicunknown
ss24207172PERLEGEN|afd0897162byFreqfwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata08/10/0409/13/04123Genomicunknown
ss40248653ABI|hCV2645818fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata07/16/0507/16/05126Genomicunknown
ss69099730PERLEGEN|PGP00897162byFreqfwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata01/30/0703/31/08127Genomicunknown
ss74840206AFFY|SNP_M-598226fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata08/09/0708/09/07128Genomicunknown
ss76524466AFFY|AFFY_6_1M_SNP_A-8385389fwd/TA/Gacacataccacatacacaatagaactctccta08/28/0708/30/07130Genomicunknown
ss78049320HGSV|Cor12878_SNV_20070510.chr12_6183672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata10/17/0710/17/07129Genomicunknown
ss78531946HGSV|Cor18507_SNV_20070510.chr12_6183672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata10/19/0710/19/07129Genomicunknown
ss81760263HGSV|Cor19240_SNV_20070510.chr12_6183672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata11/30/0712/01/07130Genomicunknown
ss84238878HGSV|Cor19129_SNV_20070510.chr12_6183672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata12/06/0712/06/07130Genomicunknown
ss84271624HGSV|Cor18517_SNV_20070510.chr12_6183672fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata12/06/0712/06/07130Genomicunknown
ss88937627BCMHGSC_JDW|JWB-0512426fwd/TA/Gaacccaacacccctacacataccacatacacaatagaactctcctacacaacccaaaata02/26/0802/28/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4764541|allelePos=381|totalLen=700|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCAAAAGAGG GAAAGGTTTG GCTATACTGA CAGAGCCCAA TCCCCTCCCC ACCTCCCTCA
 GCCCCTTTGC TTACTGTCTC TCATGCCTCG CTCACTGATG GAAACAGCAG TGTGGGGCTG
 GGAGGTCTCT TTCCCAAGAA ACCATATCCC CTAGACCTAG GGGAGGCTGG Tgcgaaacac
 agagacctac actgggaatt cagagacctg gatgtgagcc cagctctgtc ctcaactcac
 tttgaaacct tgggttggtc acttctgtgc tctaagcctc agtttcctca tctgtaaaac
 aatagcttgg aacaaatggt ctcaaaaggt cctttcaagc tcagtctatg aACCCAACAC
 CCCTACACAT ACCACATACA
 R
 CAATAGAACT CTCCTACACA ACCCAAAATA GGAACCAAta ttgggtacga tgtatactat
 gttggtgatg gtcacattaa aagcccagac ttcaccatgt gtaacaaaac tacattcgtg
 tcccctaaat ctataaataa taatataata aacaaaaTAC AAGCCCTGAA TTGGAAATGG
 GAGATGGATA CCAAGGCTTG AGTCCTCAGA ACTTAGCTTT TCTTGGCCTT TACCTCTGGA
 GCAAGAGCCC AGCTGGTGCT TTTCTTTGCT GTTGCTTCTC AGTTCCCTCT CCTCACCCTG
 GGTGGGGTCT CTCTCAGGG

  GeneView back to top
GeneView via analysis of contig annotation: CD9 CD9 molecule
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label
Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_009759->NM_001769
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_009759->NM_001769->NP_0017606167672forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4764541 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
12NW_001838050.17209046165678plusAalt_assembly_8HuRefHuRefview380
12NT_009759.1561676726183672plusAref_assemblyreferencereferenceview380
12NW_925295.161330157929433plusAalt_assembly_1CeleraCeleraview380

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009759
dbSNP Blast Analysis
GenBank HTGS Finished:
CR759739.2

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss12192238HapMap-CEUEuropean 120IG 0.233 0.450 0.317 0.479 0.458 0.542
HapMap-HCBAsian 82IG 0.220 0.463 0.317 0.752 0.451 0.549
HapMap-JPTAsian 84IG 0.405 0.476 0.119 0.643 0.357
HapMap-YRISub-Saharan African 118IG 0.068 0.932 1.000 0.034 0.966
CHMJAsian 74IG 0.392 0.608
ss16339198PGA-AFRICAN-PANELAfrican American 42IG 0.095 0.905 1.000 0.048 0.952
PGA-EUROPEAN-PANELEuropean 46IG 0.304 0.609 0.087 0.200 0.609 0.391
ss24207172AFD_EUR_PANELEuropean 46IG 0.261 0.652 0.087 0.100 0.587 0.413
AFD_AFR_PANELAfrican American 46IG 0.130 0.870 0.752 0.065 0.935
AFD_CHN_PANELAsian 48IG 0.125 0.667 0.208 0.100 0.458 0.542
ss69099730HapMap-CEUEuropean 120GF 0.233 0.450 0.317 0.458 0.542
HapMap-HCBAsian 90GF 0.222 0.467 0.311 0.456 0.544
HapMap-JPTAsian 90GF 0.400 0.489 0.111 0.644 0.356
HapMap-YRISub-Saharan African 120GF 0.083 0.917 0.042 0.958

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.467+/-0.1243332613070

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNYES

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 .