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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4670696          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_012413.3:c.1079A>C
NP_036545.1:p.His360Pro
NT_022184.14:g.16415896A>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 ss48409933 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4670696 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
ss6431036WI_SSAHASNP|NT_005367.11_4242684fwd/TA/Ctcctacaagtctttgtgttggaatatcttctttgtaatactctgatttagtttaggataa02/12/0310/10/03111Genomicunknown
ss48409933APPLERA_GI|hCV25645171byFreqrev/BG/Tttatcctaaactaaatcagagtattacaaagaagatattccaacacaaagacttgtagga09/28/0503/31/08126Genomicunknown
ss69355808BROAD_DGAP|Broad11896203fwd/TA/Ctcctacaagtctttgtgttggaatatcttctttgtaatactctgatttagtttangataa02/16/0702/16/07127Genomicunknown
ss74821954AFFY|SNP_M-327097fwd/TA/Ctcctacaagtctttgtgttggaatatcttctttgtaatactctgatttagtttaggataa08/09/0708/09/07128Genomicunknown
ss74901564ILLUMINA|ILMN_Human_1M_rs4670696fwd/TA/Ctcctacaagtctttgtgttggaatatcttctttgtaatactctgatttagtttaggataa08/28/0708/29/07129Genomicunknown
ss76679133AFFY|AFFY_6_1M_SNP_A-8540457rev/BG/Tatcagagtattacaaagaagatattccaacac08/28/0708/30/07129Genomicunknown
ss81990751HGSV|Cor18555_SNV_20070510.chr2_37511614fwd/TA/Ctcctacaagtctttgtgttggaatatcttctttgtaatactctgatttagtttaggataa11/27/0712/01/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4670696|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 TGATTTTGGA GTACAACGGT GGGATATGAG AAAGTACACA GATGATGATG AATTATCAGC
 TGTCTTTATG TGGTACAGAG CTCCCTCTGC TTGAAGAATG ACCCTTTCTA GTTTACTCAC
 TGGAGTAATG CACATTGTTA CAAGTTGGTT CTTTCTTAAT AGGTGTTCCA GTTCTGCATC
 TGATACCGTC TCCTTTCCCT GAAGTCTGGC ACACCATGGA TGACAATGAA GAAAATTTGG
 ATGAATCAAC CATTGACAAT CTAAACAAAA TCCTACAAGT CTTTGTGTTG GAATATCTTC
 M
 TTTGTAATAC TCTGATTTAG TTTAGGATAA TTGGTTCTAG AATTGAATTC AAAAGTCAAG
 GCATCATTTA AAATAATCTG ATTTCAGACA AATGCTGTGT GGAAACATCT ATCCTATAGA
 TCATCCTATT CTTATGTGTC TTTGGTTATC AGATCAATTA CAGAATAATT GTGTTGTGAT
 ATTGTGTCCT AAATTGCTCA TTAATTTTTA TTTACAGATT GAAAAAGAGG GACCGTGTAA
 AGAAAATGGA AAATAAATAT CTTTCAAAGA CTCTTTTAGA TAAACACGAT GAGGCAAAAT

  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
11
dbSNP Blast Analysis
UniGene Cluster ID
79033

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 HWP A
 C
ss48409933 HapMap-CEU European 116 IG 0.931 0.069 0.966 0.034
HapMap-HCB Asian 88 IG 0.318 0.591 0.091 0.614 0.386
HapMap-JPT Asian 86 IG 0.302 0.535 0.163 0.570 0.430
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000
AGI_ASP population multiple 74 IG 0.973 0.027 1.000 0.986 0.014

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.267+/-0.249 1072 901 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
byClusterbyFreqwithHapMapFreq UNKNOWN YES UNKNOWN

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Revised: May 25, 2006 1:38 PM .