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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9478113          
refSNP ID: rs9478113
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
Links

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 ss28515009 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9478113 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
ss13112164SC_SNP|NT_007627.10_455362fwd/BC/Tacactggagcggcaggcagtgcggacccgcgggcagccgtgcacggttgtcgtcctcagc10/22/0310/31/03119Genomicunknown
ss28515009JDRF_WT_DIL|DIL3851byFreqfwd/BC/Tacactggagcggcaggcagtgcggacccgcgggcagccgtgcacggttgtcgtcctcagc09/09/0411/02/06126Genomicunknown
ss75104107ILLUMINA|ILMN_Human_1M_rs9478113fwd/BC/Tacactggagcggcaggcagtgcggacccgcgggcagccgtgcacggttgtcgtcctcagc08/28/0708/29/07129Genomicunknown
ss78412990HGSV|Cor12878_SNV_20070510.chr6_170019284fwd/BC/Tacactggagcggcaggcagtgcggacccgcgggcagccgtgcacggttgtcgtcctcagc10/17/0710/19/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9478113|allelePos=252|totalLen=503|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 GGTGGGGAAA AAGTAGCTCT CCCAGCCTAG CCCTACTGGT GGGCGGCACC TCCTGGCTCC
 AGGCCATCTT TTGTCCCAGT CCTAGGTAAG AAAAACACAA ACAAAAGCCA GTCCCATGGC
 ACTCGAGAAG CAGGAGGCCG TTCCCTGACA GCAACATGCT GTGTGCACAG ACACACGGGT
 GGACAGGAGG CAGAGCTCGG GGTTGCTGCG GAGCGGGCAG GACACTGGAG CGGCAGGCAG
 TGCGGACCCG C
 Y
 GGGCAGCCGT GCACGGTTGT CGTCCTCAGC GGCAGGAGCC AGTTTGTTGC TCAGGGCCTT
 GTCTTTTTAC AAAGAGCCCC AGGCCCCGGG GGCTTCTCTG GGTGCCTCTT TGCTGCCATG
 TCTGCACGCG GGCGGAGAGC AGACCAGGCT ACCGACCCTC TCGCTTTGCT GTCTTCACGT
 GGAAAAGCCA GTGTCGTAGC CCCAAAGGAG GGGAAACTGT ATTGATTTGG GGAGCCTCTA
 TGTTGATTTC A

  GeneView back to top
GeneView: no link established by analysis of contig annotation
GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9478113 maps exactly once on NCBI human chromosome 6
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
6NW_001838995.1427191167621418plusCalt_assembly_8HuRefHuRefview251
6NT_007302.132158655169943577plusCref_assemblyreferencereferenceview251
6NW_923184.1102980039170911435plusCalt_assembly_1CeleraCeleraview251

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007627
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank mRNA:
AL049612.11 AL354892.19 AK023224.1
UniGene Cluster ID
546442

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss28515009HapMap-CEUEuropean 112IG 0.804 0.125 0.071 0.001 0.866 0.134
HapMap-HCBAsian 84IG 0.929 0.071 1.000 0.964 0.036
HapMap-JPTAsian 90IG 0.933 0.067 0.967 0.033
HapMap-YRISub-Saharan African 118IG 0.915 0.085 0.752 0.958 0.042

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.120+/-0.21427021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .