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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs11568142          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001140.3:c.268G>C
NP_001131.3:p.Asp90His
NT_010718.15:g.4146167C>G
XM_001718416.1:c.151G>C
XP_001718468.1:p.Asp51His
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 ss16339133 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11568142 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
ss16339133PGA-UW-FHCRC|ALOX15-003847fwd/BC/Gtggatctctgtgcagggccccggagccgggacgaggtcaggttcccttgttaccgctggg12/17/0301/23/04120Genomicunknown
ss46533731RIVM-TOX|ALOX15-ex2fwd/C/Gtggatctctgtgcagggccccggagccgggacgaggtcaggttcccttgttaccgctggg07/27/0507/27/05126GenomicGunknown
ss76876753CGM_KYOTO|719088rev/C/Gcccagcggtaacaagggaacctgacctcgtcccggctccggggccctgcacagagatcca09/12/0709/12/07129cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11568142|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=129
 CCCGATACGT CTCCTCCTCT CAGAGGCTCC GAGGAAGGGC GTGGGCGCTG GAGGGAGCAG
 GGCTCAGCCG GGTGCCCCTC CCGCCAGGCC CCACCGGGGC TGAGCCTCTT CTGTCGCCCG
 CAGGAGACAG AACTCAAGGT GGAAGTACCG GAGTATCTGG GGCCGCTGCT GTTTGTGAAA
 CTGCGCAAAC GGCACCTCCT TAAGGACGAC GCCTGGTTCT GCAACTGGAT CTCTGTGCAG
 GGCCCCGGAG CCGGG
 S
 ACGAGGTCAG GTTCCCTTGT TACCGCTGGG TGGAGGGCAA CGGCGTCCTG AGCCTGCCTG
 AAGGCACCGG TAAGCGCGGG GCTGAGGGTG TCAGGAGGCC TCTGGGCTGT GTGAGAAGCT
 GGGGGGATGC GCGTGTGGAG AAGAGGGCGC AGGATGGGGG TGCTGGAACC TGGAGCGCCG
 GGGTCTTTGG GGGTGTCGAA GGGGCGGTGG CTGCAGCTGG CACAAAGTGG CTGGAGCCTG
 GGGGAGGGGC GTGAT

  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_010718.15 001140
dbSNP Blast Analysis
UniGene Cluster ID
73809

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source C/G
G/G
HWP C
G
ss16339133 PGA-AFRICAN-PANEL African American 48 IG 1.000 1.000
PGA-EUROPEAN-PANEL European 46 IG 0.043 0.957 1.000 0.022 0.978

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.021+/-0.100 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
byCluster UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .