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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs714136          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_015370.1:c.629C>G
NP_056185.1:p.Thr210Arg
NT_011520.11:g.8845543G>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 ss44313000 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs714136 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
ss23432TSC-CSHL|TSC0006355byFreqfwd/BC/Gaggacacgctaaccatccatggtctccccaagagggttaccaggctctgtaccacgctgt09/06/0005/16/0486Genomic95 %
ss44313000ABI|hCV12814rev/C/Gacagcgtggtacagagcctggtaaccctcttggggagaccatggatggttagcgtgtcct07/18/0507/18/05126Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs714136|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=126
 TGGTTGTTGC TGTAACCAAG ACTCTGGGAC ACAAATCCCA GATAATTATT CTGAGCTCCC
 CTCTCAAGTT TTAGCTTTGA CTTCTCTGCT TTCTTCCTGG CTAGAGTAAA GAAAGTTCAA
 AGGAGAAAAA ACTAACAGTC CGCCAAGATC TTGAGGACAG ATATGCTGAA CATGTGGCTG
 CCACCCAAGC GCTACCCCAG GACAGTGGGA CAGCAGCCTG GAAGGGCCGA GTGTTGCTTC
 CTGAAACCCA AAAGAGACAG CAGTTGTCGG AGGACACGCT AACCATCCAT GGTCTCCCCA
 S
 AGAGGGTTAC CAGGCTCTGT ACCACGCTGT GGTGGAGCCA ATGCTGTGGA ATCCTTCAGG
 GACCCCCAAG AGGTACAGCC TGGAGCTGGG CAAGGCCATT AAACAAAAGC TCTGGGAGGC
 TCTTTGCAGT CAGGGTGCCA TCTCTGAAGG TGCTCAGAGG GACCGGTTCC CTGGCAGGAA
 GCAGCCAGGT GTCCACGAGG AGCCTGTACT CAAGAAATGG CCCAAGTTAA AGAGCAAAAA
 ATAGGAACAA GAACTCATGG GATTAGAGTA TTCTCTGCTA GAGATCTGAA AAATAAACAC

  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
AL021393.1
dbSNP Blast Analysis
UniGene Cluster ID
50891

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 G/G
 HWP C
 G
ss23432 SC_12_AA African American 18 IG 1.000 1.000
SC_12_C European 14 IG 1.000 1.000
CEPH 184 AF 1.000
ss44313000 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 118 IG 1.000 1.000
Concordant Genotype Total Sample C/C G/G
ss23432 23 17
ss44313000 524 267
RefSNP Genotype Summary Total Individual C/C G/G
rs714136 547 284
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
429 ss23432 G/G TSC-CSHL SC_12_C CEPH1416.01 TSC-SANGER-SC_12_C-Sep-18-2003-GENOTYPE
429 ss44313000 G/G CSHL-HAPMAP HapMap-CEU NA10835 CEPH1416.01 r27_ch22_CEU_bcm:genotype_0002
Genotype data submitted for549 samples from547 individualsIndividual with multiple genotypes submission:2

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .