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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs3913          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/130
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
NR_001545.2:c.388-8279G>A
NT_011875.11:g.990979A>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 ss3950 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3913 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
ss3950OEFNER|M22byFreqfwd/TA/Gttgttttaaggtgccattcctggtggctctcctccttcccccagtgcccatatgggccct01/23/9904/07/0436Genomicunknown
ss69277854PERLEGEN|PGP04786537fwd/TA/Gttgttttaaggtgccattcctggtggctctcctccttcccccagtgcccatatgggccct01/30/0701/30/07127Genomicunknown
ss75232224ILLUMINA|ILMN_Human_1M_rs3913fwd/TA/Gttgttttaaggtgccattcctggtggctctcctccttcccccagtgcccatatgggccct08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3913|allelePos=129|totalLen=327|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 agaagggtct gaaagcaggt tcgtgatttc accctttaca gtttaataca agggatttta
 catacagaca tataagctga tagtcctggt ttccctattt gttttaaggt gccattcctg
 gtggctct
 R
 cctccttccc ccagtgccca tatgggccct tagtctgCTG TAGGCATGCT CAGGCAAGCC
 CTTGAGCAAA TTCCCTTAAT CTGCACGAAA CATgggctgg agattcagtg ggaccctttc
 tttagtgtct gcctaatgca agctggctaa ctcctttcaa aagttttgtc ttgctgatga
 agcctccagg tagtaggc

  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
dbSTS GenBank
G12019 NC_000024.7
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 HWP A
 G
ss3950 Global 718 AF 0.987 0.013
HapMap-CEU European 60 IG 1.000 1.000
HapMap-HCB Asian 44 IG 1.000 1.000
HapMap-JPT Asian 44 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 60 IG 1.000 1.000
ss69277854 HapMap-CEU European 56 GF 1.000 1.000
HapMap-HCB Asian 40 GF 1.000 1.000
HapMap-JPT Asian 44 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 60 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
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
byClusterwithHapMapFreq YES YES YES

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Revised: May 25, 2006 1:38 PM .