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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17093294          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001098725.1:c.166G>A
NM_021966.2:c.166G>A
NP_001092195.1:p.Val56Ile
NP_068801.1:p.Val56Ile
NT_026437.11:g.77178441C>T
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 ss24134414 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17093294 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
ss24134414PERLEGEN|afd1470162byFreqfwd/BC/Tgggtgggggtcataggcctccccaggacgagtcttcccgacgcaagagcacccgtaactg08/10/0409/13/04123Genomicunknown
ss69167612PERLEGEN|PGP01470162byFreqfwd/BC/Tgggtgggggtcataggcctccccaggacgagtcttcccgacgcaagagcacccgtaactg01/30/0703/31/08127Genomicunknown
ss74814468AFFY|SNP_M-306065fwd/BC/Tgggtgggggtcataggcctccccaggacgagtcttcccgacgcaagagcacccgtaactg08/09/0708/09/07128Genomicunknown
ss74858567ILLUMINA|ILMN_Human_1M_rs17093294fwd/BC/Tgggtgggggtcataggcctccccaggacgagtcttcccgacgcaagagcacccgtaactg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17093294|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 GAGTCTGAGG ATCGGTATCG TCCATCAGGG TAGAGCTGCC ACATGATAGG CAGCAGGCTT
 GGGCCTATCT GGGTGGGGGT CATAGGCC
 TCCCCAGGAC GA
 Y
 GTCTTCCCGA CG
 CAAGAGCACC CGTAACTGTA ACCTATCCTT TATCTGAGGA GAAGAAAAGG ACAGGGCATA
 CTTTCAGGTT CCGCTTGCCA GGGCTTCT

  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
NC_000014.7
dbSNP Blast Analysis
UniGene Cluster ID
2484

  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
 N
 T
ss24134414 AFD_EUR_PANEL European 44 IG 0.955 0.045 1.000 0.977 0.023
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 46 IG 0.652 0.348 0.317 0.826 0.174
HapMap-CEU European 118 IG 0.983 0.017 1.000 0.992 0.008
HapMap-HCB Asian 90 IG 0.733 0.200 0.067 0.100 0.833 0.167
HapMap-JPT Asian 90 IG 0.711 0.289 0.273 0.856 0.144
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
CHMJ Asian 74 IG 0.784 0.149 0.068
ss69167612 HapMap-CEU European 120 GF 0.983 0.017 0.992 0.008
HapMap-HCB Asian 90 GF 0.733 0.200 0.067 0.833 0.167
HapMap-JPT Asian 90 GF 0.711 0.289 0.856 0.144
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.128+/-0.218 919 770 276 0

  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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .