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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4647419          
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_000136.2:c.239T>C
NP_000127.2:p.Ile80Thr
NT_008470.18:g.5330930A>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 ss6313211 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4647419 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
ss6313211EGP_SNPS|FANCC-072148fwd/BC/Ttgttggcaaaagcttgttggaatccttttatttagcatatggtaagaatcaaaaacgtgt01/22/0301/23/04111Genomicunknown
ss74899241ILLUMINA|ILMN_Human_1M_rs4647419fwd/BC/Ttgttggcaaaagcttgttggaatccttttatttagcatatggtaagaatcaaaaacgtgt08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4647419|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 GGTTGCTTTT TAAACTTTAT TTGAATTACT TACCTAAAGA TCTTCTCTAA TCCTTTTGTG
 CTTACTTTTA AAAATGGTAT ACTAAACAAG AAGCATTCAC GTTCCCTCAA TCTATAATGT
 CAGTTCAGTA TTTCTAAGTT GCATAATGCC TTTACTGACC AAAATTTATT TTTCTTTCAC
 AGGATTCTAA TACAGTCATT GAAAGATTCC CCACAATTGG TCAACTGTTG GCAAAAGCTT
 GTTGGAATCC TTTTA
 Y
 TTTAGCATAT GGTAAGAATC AAAAACGTGT CCTCTCAAAA TGGCTATTTT AATCTTTGCA
 TTGTTTCACA GAGGCTTACA TTATGAACCT TTCTCCTAGT TTTTTTTTTT TAATGGAACA
 ACTTATCAAA TGTATTCATT GTTCTATTAC AAAGATGGCT TCCTATACTG TTGTCCATGT
 ATGTGTGTGT AGGTTTGTAT AGATAAacac acacacacac acacacacac gcgtgcacgc
 acCCATGCAG ATCTT

  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
AY220878
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/T
 T/T
 HWP C
 T
ss6313211 PDR90 Global 152 IG 0.013 0.987 1.000 0.007 0.993
HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.003+/-0.042 615 499 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 .