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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2447571          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000695.3:c.658G>A
NM_000695.3:c.659G>A
NM_001031615.1:c.658G>A
NP_000686.2:p.Gly220Asp
NP_000686.2:p.Gly220Ser
NP_001026786.1:p.Gly220Ser
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 ss40028479 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2447571 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
ss3430806SC_JCM|AC021987.3_109870fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa09/24/0110/10/03100Genomicunknown
ss6312160RIKENSNPRC|ssj0004542rev/TA/Gttccagcggctgcgggcattgctgggctgcgcgtgtggccattgggggccagagcgatga01/15/0310/10/03113Genomicunknown
ss12165414WI_SSAHASNP|chr11.NT_033903.5_12533193fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa07/04/0310/10/03116Genomicunknown
ss15632085SC_SNP|NT_033903.6_12605846fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa11/17/0311/22/03120Genomicunknown
ss16547440CSHL-HAPMAP|CSHL-HuAA-200402.chr11.NT_033903.6_12605846fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa02/17/0403/04/04120Genomicunknown
ss20740481SSAHASNP|WGSA-200403-chr11.chr11.NT_033903.6_12605846fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa03/19/0403/19/04121Genomicunknown
ss28497510MGC_GENOME_DIFF|37541191-T12605846Cfwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa08/20/0408/20/04126cDNAunknown
ss28512228MGC_GENOME_DIFF|BC007685x37541191-T12605846Cfwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa08/25/0408/25/04126cDNAunknown
ss40028479ABI|hCV15795699fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa07/16/0507/16/05126Genomicunknown
ss65837870KRIBB_YJKIM|KHS13662fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa10/17/0611/15/06127Genomicunknown
ss75309308ILLUMINA|ILMN_Human_1M_rs2447571fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa08/28/0708/29/07129Genomicunknown
ss80412389HGSV|Cor18507_SNV_20070510.chr11_67189380fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa11/23/0711/25/07130Genomicunknown
ss83831157HGSV|Cor18555_SNV_20070510.chr11_67189380fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa11/27/0712/05/07130Genomicunknown
ss85732040HGSV|Cor19129_SNV_20070510.chr11_67189380fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa12/06/0712/10/07130Genomicunknown
ss88624388BCMHGSC_JDW|JWB-0436838fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa02/26/0802/27/08129Genomicunknown
ss97393821HUMANGENOME_JCVI|1103649712058fwd/BC/Tcgttgctctggcccccaatggccacgcggcgcagcccagcaatgcccgcagccgctggaa03/29/0803/29/08130Genomicunknown
ss106749122BGI|BGI_rs2447571fwd/BC/Tcgttgctctggcccccaatggccacrcggcgcagcccagcaatgcccgcagccgctggaa09/16/0809/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2447571|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GCACGCTGGG CCCTGGAGCC CTGGAATCTG AGCTCAGTGA ATCCAGGGCT GAGGGACCAG
 AGTATGGCCT CATGGGGCCA CAGGCTCAGA AGCACAGAGA CGGAATCGTG GCACCAGAGC
 CATGGCTCAA GGCCGGGCTC TGATAGTGGG GCCGGGTTTC AGGTGCGAGT CCAGACTCGT
 GGCCCAGCCG TGGGCCCTCC ATTGAGAAAG GGTCTTGGCC CAGGTGGGCT GCGGTAGGGC
 AGCAGGACTC ACCGATGTAG CGATCGCTCT CGTTGCTCTG GCCCCCAATG GCCACGCGGC
 Y
 GCAGCCCAGC AATGCCCGCA GCCGCTGGAA CTGTTTCTGG TTGATGATGT GGCCCAGGTT
 TGGGGAGCTC TGGGGGTCGT CGCCATAGAA ACGGGTGATG GTGCTCTGCA GGGCGGGCAG
 CAGCCTCTCC TGCATCTCGG GGCTGCACAG GACGTAGTCA GGGGCCACGC AGGTCTGGCC
 GGCATTGAAG TAGCAGAACC AGGCCACGCG GTTGGCCACG GTCTGGGGGT CGCAGTTGTC
 GTCCACGTAG CAGGGGTTCT TGCCCCCCAG CTCCAGGGTG ACAGGCGTCA GGTGCTTGGT

  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_033903 ABBA01024026 AP003385 BC007685
dbSNP Blast Analysis
UniGene Cluster ID
87539

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss65837870 KHP1 172 AF 0.988 0.012 1.000 0.994 0.006

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.012+/-0.075 91 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
byCluster UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .