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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs176037          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/130
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
NM_005462.3:c.452C>T
NP_005453.2:p.Thr151Ile
NT_011786.15:g.25204990C>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 ss43593024 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs176037 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
ss234235KWOK|OVLP-000621-151555fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc06/30/0010/10/0379Genomic94 %
ss546820SC_JCM|AL022152.1_12964byFreqfwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc07/12/0005/16/0480Genomicunknown
ss1277250KWOK|OVLP-000804-619888fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc09/02/0010/10/0386Genomic94 %
ss1653838KWOK|OVLP-000925-249844fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc10/05/0010/10/0387Genomic94 %
ss20988477SSAHASNP|WGSA-200403-chrX.chrX.NT_011786.14_16559725fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc03/19/0403/19/04121Genomicunknown
ss43593024ABI|hCV27177555fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc07/18/0507/18/05126Genomicunknown
ss115660057ILLUMINA-UK|NA18507_000077461_NCBI36.1_chrX_140821308fwd/BC/Ttgagtattttccagagttcccctgagagtatcaaagtccttttgagggttttccccagtc01/15/0901/15/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs176037|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 TCCAGAGTCC TCAGAGTCGT TCTGAGGGGG AGGACTCCTC GGATCCTCTC CAGAGACCTC
 CTGAGGGGAA GGACTCCCAG TCTCCTCTCC AGATTCCCCA GAGTTCTCCT GAGGGCGACG
 ACACCCAGTC TCCTCTCCAG AATTCTCAGA GTTCTCCTGA GGGGAAGGAC TCCCTGTCTC
 CTCTAGAGAT TTCTCAGAGC CCTCCTGAGG GTGAGGATGT CCAGTCTCCT CTGCAGAATC
 CTGCGAGTTC CTTCTTCTCC TCTGCTTTAT TGAGTATTTT CCAGAGTTCC CCTGAGAGTA
 Y
 TCAAAGTCCT TTTGAGGGTT TTCCCCAGTC TGTTCTCCAG ATTCCTGTGA GCGCCGCCTC
 CTCCTCCACT TTAGTGAGTA TTTTCCAGAG TTCCCCTGAG AGTACTCAAA GTCCTTTTGA
 GGGTTTTCCC CAGTCTCCAC TCCAGATTCC TGTGAGCCGC TCCTTCTCCT CCACTTTATT
 GAGTATTTTC CAGAGTTCCC CTGAGAGAAC TCAGAGAACT TCTGAGGGTT TTGCCCAGTC
 TCCTCTCCAG ATTCCTGTGA GCTCCTCCTC GTCCCTCCAC TTTATTGAGT CTTTTCCAGA

  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
NT_011786 AL023279 AL023279.1
dbSNP Blast Analysis
UniGene Cluster ID
132194

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP C
 T
ss546820 CEPH 184 AF 0.690 0.310

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.428+/-0.176 0 0 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
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .