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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs34531231          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/130
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_002009.2:c.176T>C
NM_152647.2:c.1013-53074G>A
NP_002000.1:p.Met59Thr
NT_010194.16:g.20507227T>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 ss48429663 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34531231 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
ss48429663APPLERA_GI|hCV25971382byFreqfwd/BC/Tctgagcgacacacaagaagttatgattacaggaaggaggggatataagagtgagaagact09/28/0511/03/06126Genomicunknown
ss69175772PERLEGEN|PGP17790854fwd/BC/Tctgagcgacacacaagaagttatgattacaggaaggaggggatataagagtgagaagact01/30/0701/30/07127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34531231|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=127
 AACTACTCTT TCTTAAATCA ATCTACAATT CACAGATAGG AAGAGGTCAA TGACCTAGGA
 GTAACAATCA ACTCAAGATT CATTTTCATT ATGTTATTCA TGAACACCCG GAGCACTACA
 CTATAATGCA CAAATGGATA CTGACATGGA TCCTGCCAAC TTTGCTCTAC AGATCATGCT
 TTCACATTAT CTGTCTAGTG GGTACTATAT CTTTAGCTTG CAATGACATG ACTCCAGAGC
 AAATGGCTAC AAATGTGAAC TGTTCCAGCC CTGAGCGACA CACAAGAAGT TATGATTACA
 Y
 GGAAGGAGGG GATATAAGAG TGAGAAGACT CTTCTGTCGA ACACAGTGGT ACCTGAGGAT
 CGATAAAAGA GGCAAAGTAA AAGGGACCCA AGAGATGAAG AATAATTACA GTAAGTAATT
 TTAAGTACTG CTCATGAACC TTAGCAATCT GTTAATGGAT CAATTTTCAG GTGATATGTT
 TTCTCATCTT CCTTTTGCTT CTTGGAAAAA AAATTAAATA AAATGTCACC TAATTTCTCT
 AAATTGAACT ATGTTGAACT ATGCCCCTAA AAATATCTCT TTTAACAGGG CAAATCTACT

  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_000015.8
dbSNP Blast Analysis

  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
 T
ss48429663 AGI_ASP population multiple 66 IG 0.030 0.182 0.788 0.403 0.121 0.879
ss69175772 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.017 0.983 0.008 0.992

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.036+/-0.130 39 39 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
byClusterbyFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .