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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4667          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_004152.2:c.95G>T
NP_004143.1:p.Arg32Leu
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 ss32479339 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4667 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
ss5367DEBNICK|cSNP-91fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg06/04/9910/10/0352cDNAunknown
ss10624CGAP-GAI|52234fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg08/23/9910/10/0352cDNA99 %
ss1532367LEE|578519fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg09/13/0010/10/0392cDNAunknown
ss16227746CGAP-GAI|1463415fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg11/18/0311/22/03120cDNAunknown
ss32479339EGP_SNPS|OAZ1-001886byFreqfwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg01/06/0511/02/06126Genomicunknown
ss74884805ILLUMINA|ILMN_Human_1M_rs4667fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg08/28/0708/29/07129Genomicunknown
ss80751680HGSV|Cor18507_SNV_20070510.chr19_2220692fwd/BG/Tataaacccagcgccaccatccacgccagcccaccatgccgctcctaagcctgcacagccg11/26/0711/26/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4667|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 CCTCGTGCGG TCGCGTTCCC GGCGGCGCGG GGGGCGTGGC CTGGGCGCAG CATCTATAAA
 GGCGGGCGGC GGCAGAGGCG CCATTTTGCG AACGGCGAGC AGCGGCGGCG GCGCGGAGAG
 ACGCAGCGGA GGTTTTCCTG GTTTCGGACC CCAGCGGCCG GATGGTGAAA TCCTCCCTGC
 AGCGGATCCT CAATAGCCAC TGCTTCGCCA GAGAGAAGGA AGGGGATAAA CCCAGCGCCA
 CCATCCACGC CAGCC
 K
 CACCATGCCG CTCCTAAGCC TGCACAGCCG CGGCGGCAGC AGCAGTGAGA GGTAAGTGCC
 CCGCCCCCGT CCGAAGCTTC CAGAAGCGCC GGCCGCGCAG GCCTGCGGGG GGCCGTCCTC
 GGGGCGCCAG ATAGGTTCCC GGCGCGCGAG ATCCGCCCCT TTGTCAAGGC CAGAATCGCG
 CCGGGGACGA GGTAGGCGCA GGGCGGGCCT GGAGGTCCCC CCCGGCCTTA GCAGTGCTCT
 CGGGGGAGTC GGGTT

  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
U09202 D87914 D89870 H52056 Hs.125078
dbSNP Blast Analysis
UniGene Cluster ID
446427

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 G/T
 HWP G
 T
ss10624 CEPH 184 AF 1.000
ss32479339 PDR90 Global 178 IG 0.978 0.022 1.000 0.989 0.011

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.022+/-0.103 90 90 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, NCBI
 UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .