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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17875653          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:124/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_001824.2:c.379C>G
NP_001815.2:p.Leu127Val
NT_011109.15:g.18087043G>C
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 ss28525577 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17875653 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
ss28525577PGA-UW-FHCRC|CKM-009314fwd/BC/Gggtggagacgacctggaccctaactacgtgtcagcagccgcgtccgcactggccgcagca11/05/0411/05/04124Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17875653|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=124
 AGAGAGGTAT AAAGAAAAAC AGAGATAGGA GAGGGGAGAG AGACAGAGAA GGGAGAGACA
 GAGCCCAGGT ATGGGTGGCG GGGAGAGGCT CCACACACCC AATCAGTGAG GATGCAGAAG
 GCAAAGGAAG CAACAGGGAG ACTGAGGGGA GCATCTGGGG GAGACCTGGG CTTGCTGGAG
 AGGGCGGAGG ATCTGCCTGG TCCTGATCTC CCACCCGCTC TCCAGGGTGG AGACGACCTG
 GACCCTAACT ACGTG
 S
 TCAGCAGCCG CGTCCGCACT GGCCGCAGCA TCAAGGGCTA CACGTTGCCC CCACACTGCT
 CCCGTGGCGA GCGCCGGGCG GTGGAGAAGC TCTCTGTGGA AGGTGAGCGC CCCTACCCCG
 TCCACTGCTG GGGTCACCCA GCCCTGGCTC TGTTCCTCCA TGGGCAGGTC CTCGGGTCTC
 TTTGGGCCCC CGCTTTTCAA AGTAGGGGAA GAGCTTGGTA AATCGTGGGG GCTTGGGGAA
 TGGCGCGGGC TGTCA

  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
AY585238
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/G
 HWP C
 G
ss28525577 PGA-AFRICAN-PANEL African American 42 IG 1.000 1.000
PGA-EUROPEAN-PANEL European 46 IG 0.957 0.043 1.000 0.978 0.022

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.022+/-0.104 47 26 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
UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .