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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs9916724          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/130
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
NG_000018.2:g.8528A>G
NM_003770.4:c.116A>G
NP_003761.3:p.Asn39Ser
NT_010755.15:g.3304956T>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 ss48411815 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9916724 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
ss13754945BCM_SSAHASNP|chr17.NT_010755.14_3303158fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat11/05/0311/22/03119Genomicunknown
ss48411815APPLERA_GI|hCV25772302byFreqfwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat09/28/0511/03/06126Genomicunknown
ss69196286PERLEGEN|PGP00819455byFreqfwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat01/30/0703/31/08127Genomicunknown
ss78106706HGSV|Cor12878_SNV_20070510.chr17_36834186fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat10/17/0710/17/07129Genomicunknown
ss82091741HGSV|Cor18956_SNV_20070510.chr17_36834186fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat11/30/0712/02/07130Genomicunknown
ss90587503BCMHGSC_JDW|JWB-1021134fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat02/26/0802/29/08129Genomicunknown
ss103345889BGI|BGI_rs9916724fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat06/06/0806/18/09130Genomicunknown
ss1097624561000GENOMES|CEU.trio.12.15.2008_3398367_chr17_36834186fwd/BC/Tacgttggccaagaggcacatggaggcagcatggcctctgccacaggctggcacccaacat12/15/0812/16/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9916724|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CTCTCGAGGA GTGTGGTCTC CAGCTCTGCA TTCTCCTGCT CCAGCTGGCG CACCTTCTCC
 AGGTAGTTGG CCAGGCGGTC ATTCAGGAAC TTCATGGTCT CCTTCTCATG GCCATTCAGG
 GTGTTTTTGC CGTAGGCCCC ACAGATTCCG ATGTTGCCGG GAATGTGACA GGTCCCTGGC
 AAGGGACAAG CAGTGTGACT GGTTGGGGGC AGACAGAGGC TGGGGCGGCC CAGGGGAGTC
 GACCCCACAC GGACTCTGTT GGCGTGTGCC ACGTTGGCCA AGAGGCACAT GGAGGCAGCA
 Y
 TGGCCTCTGC CACAGGCTGG CACCCAACAT CGATAGGAGA GACAAAGACA TTTCTTGCTC
 CAGGAGCCAT GGTGCAACCC AGAGGGCATG AGGAGGTGCT GTAGAAGGAG GTCATGGTGT
 AGGGCTGAGG CTGCACAGGA GCTTCAGATC AGCTGGGAAG GCTGAGCCAC TGAGACTGAA
 GCCTCCTCTC CTCCCAACCC TTTTATACCC CATCCTGGGC GGGTGTTGGC TCCAGTGCTT
 TGACCTCCTG CCTTGATTAT CTACCTGTTG TGGTGCCATC ATCCTGTTAC TCAGCTGCTG

  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_010755
dbSNP Blast Analysis
UniGene Cluster ID
463024

  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
ss48411815 HapMap-HCB Asian 86 IG 0.093 0.558 0.349 0.251 0.372 0.628
HapMap-JPT Asian 84 IG 0.238 0.381 0.381 0.429 0.571
HapMap-YRI Sub-Saharan African 112 IG 0.036 0.232 0.732 0.584 0.152 0.848
AGI_ASP population multiple 48 IG 0.083 0.292 0.625 0.403 0.229 0.771
ss69196286 HapMap-CEU European 120 GF 0.217 0.533 0.250 0.483 0.517
HapMap-HCB Asian 90 GF 0.089 0.556 0.356 0.367 0.633
HapMap-JPT Asian 90 GF 0.244 0.378 0.378 0.433 0.567
HapMap-YRI Sub-Saharan African 120 GF 0.033 0.250 0.717 0.158 0.842

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.440+/-0.163 478 390 180 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .