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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs34423078          
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:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_002288.3:c.260A>G
NM_021270.2:c.260A>G
NP_002279.2:p.His87Arg
NP_067154.1:p.His87Arg
NT_011109.15:g.27287485A>G
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 ss48410640 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34423078 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
ss48410640APPLERA_GI|hCV25974268byFreqfwd/TA/Gttggtccatctgagtcagaggccagattcccattgactcagtaagtgaaggaaatgccgg09/28/0511/03/06126Genomicunknown
ss69231487PERLEGEN|PGP17792934byFreqfwd/TA/Gttggtccatctgagtcagaggccagattcccattgactcagtaagtgaaggaaatgccgg01/30/0703/31/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34423078|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=127
 GCATAACTCT ATAAAATTGC TAAAATCCCT GAATTGTGAT CCTAAAATGA CGTGTGTGGC
 ATGGTGACTT CCTACAGTGG ACGCTGAGAT CCTTCTTTGC TTCCCTCTTA GGGGCCCTTC
 CCAGACCCTC CATCTCGGCT GAGCCAGGCA CTGTGATCTC CCCGGGGAGC CATGTGACTT
 TCATGTGCCG GGGCCCGGTT GGGGTTCAAA CATTCCGCCT GGAGAGGGAG GATAGAGCCA
 AGTACAAAGA TAGTTATAAT GTGTTTCGAC TTGGTCCATC TGAGTCAGAG GCCAGATTCC
 R
 CATTGACTCA GTAAGTGAAG GAAATGCCGG GCTTTATCGC TGCCTCTATT ATAAGCCCCC
 TGGATGGTCT GAGCACAGTG ACTTCCTGGA GCTGCTGGTG AAAGGTAAGG ACGTCACCTG
 GGCCCTGCCC CAGTCTCAGC TCAACCCTCG AGCTTGTCCC GAGGTCCCTG GACCCTGTCC
 CGGCTGCTGT CCTCTCTCTG TGGCCACCGT TGCCCTCTTC CTGACCCCAA GCCCTCCCCT
 TCTTCCTCTG CACACACCTC CCCTCTGCCC TCACACCTGC TTAGGTCCCT GGAGCCCTGA

  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_000019.8
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss48410640 AGI_ASP population multiple 62 IG 0.935 0.065 1.000 0.968 0.032
ss69231487 HapMap-CEU European 120 GF 1.000 0.500 0.500
HapMap-HCB Asian 90 GF 1.000 0.500 0.500
HapMap-JPT Asian 90 GF 1.000 0.500 0.500
HapMap-YRI Sub-Saharan African 120 GF 1.000 0.500 0.500

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.493+/-0.060 36 36 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 .