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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs45589338          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_002430.2:c.1146G>T
NP_002421.3:p.Gln382His
NT_011520.11:g.7585955C>A
Links

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 ss71640271 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45589338 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
ss71640271EGP_SNPS|MN1-004117fwd/BG/Tttcgtgcccgcctgcgctccctcggccccacagggcgaggcgggcacgcccagcggcggc04/27/0712/17/08127Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45589338|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=127
 CCAGCAGCAG CAGCAGCCCC AGCAGCAGCA GCAGCAGCAT GGTGTGTTCT TTGAGAGGTT
 CAGTGGGGCC AGAAAGATGC CTGTGGGTCT GGAGCCCTCA GTGGGCTCCA GGCACCCGTT
 AATGCAGCCT CCCCAGCAGG CCCCGCCACC CCCTCAGCAG CAGCCCCCGC AGCAGCCGCC
 ACAGCAGCAG CCGCCGCCGC CACCCGGGCT TCTAGTCCGA CAAAATTCGT GCCCGCCTGC
 GCTCCCTCGG CCCCA
 K
 CAGGGCGAGG CGGGCACGCC CAGCGGCGGC CTGCAGGACG GAGGCCCCAT GCTGCCCAGC
 CAGCACGCGC AATTCGAGTA TCCCATCCAC CGGCTGGAGA ACCGGAGCAT GCACCCTTAT
 TCCGAGCCTG TTTTCAGCAT GCAGCATCCT CCTCCGCAGC AGGCGCCCAA CCAGCGGCTG
 CAGCATTTCG ACGCGCCCCC CTACATGAAC GTGGCCAAGA GGCCGCGCTT CGACTTTCCG
 GGCAGCGCGG GAGTG

  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
EF540994
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 G/T
 T/T
 HWP G
 T
ss71640271 EGP_YORUB-PANEL Sub-Saharan African 20 AF 1.000 1.000
EGP_HISP-PANEL Hispanic 34 AF 0.882 0.118 0.941 0.059
EGP_CEPH-PANEL European 44 AF 0.818 0.136 0.045 0.886 0.114
EGP_AD-PANEL African American 14 AF 1.000 1.000
EGP_ASIAN-PANEL Asian 34 AF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.091+/-0.193 95 95 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
byFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .