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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12427696          
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:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_002010.1:c.280A>G
NM_002010.2:c.280A>G
NP_002001.1:p.Ile94Val
NT_024524.13:g.3235183A>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 ss43555547 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12427696 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
ss19261277CSHL-HAPMAP|CSHL-HuDD-200402.chr13.NT_024524.13_3235183fwd/TA/Gtcctctgccttctaccctttgtctacaggcttctggaatttatcagtatagcagtgggcc02/20/0403/04/04120Genomicunknown
ss28462068EGP_SNPS|FGF9-010469fwd/TA/Gtcctctgccttctaccctttgtctacaggcttctggaatttatcagtatagcagtgggcc07/09/0407/09/04123Genomicunknown
ss43555547ABI|hCV9868440fwd/TA/Gtcctctgccttctaccctttgtctacaggcttctggaatttatcagtatagcagtgggcc07/18/0507/18/05126Genomicunknown
ss74820081AFFY|SNP_M-322557fwd/TA/Gtcctctgccttctaccctttgtctacaggcttctggaatttatcagtatagcagtgggcc08/09/0708/09/07128Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12427696|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=128
 CCTATTACTT CTTAGCATAT CTATGTAGAT ACTAACTTTT TAATTTTTAA AATGTTTTGT
 TTTTTGTGTA AGTCATGTTG GTAAGTATTT TTGTGTCATT ATGATAAGAT AGAATTTAGT
 TGAAAATCAA TTCTTTTACA CAGTGATTTT CAAAGAGAAG ACACTTCTTT AACTAGCGTG
 GGGTTATCCA AGTGGGGAGC TGGGCTTAGT GTCCTCTCCA AAACCCCAGG GATGCTGGGA
 CTCTAAGGAC ATGCTCTGTG ATCTGATCTG TCCTCTGCCT TCTACCCTTT GTCTACAGGC
 R
 TTCTGGAATT TATCAGTATA GCAGTGGGCC TGGTCAGCAT TCGAGGCGTG GACAGTGGAC
 TCTACCTCGG GATGAATGAG AAGGGGGAGC TGTATGGATC AGTAAGTACT GGAGGGACTT
 CATCCAGCTT TATCTCCATG TTTGATTTGA ACAGCTGTCT TTTCTCTGGA TTAAAAAGGG
 CCAGAAATGC AACTGAGTCT GTTTGGAAGG CGAGTGTAAG TTTTTACTTT TTGAGGAAAG
 CCATTTTATT TTTATTAATA GATAAACAGC TCTGCACCTT CACTAGACCA AAGTTGCTAA

  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_024524
dbSNP Blast Analysis
UniGene Cluster ID
111

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss28462068 PDR90 Global 174 IG 0.989 0.011 1.000 0.994 0.006
ss43555547 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.003+/-0.041 615 499 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
byClusterwithHapMapFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .