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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17151919          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NG_007450.1:g.18262G>A
NM_000230.1:c.280G>A
NM_000230.2:c.280G>A
NP_000221.1:p.Val94Met
NT_007933.14:g.53078168G>A
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 ss48427045 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17151919 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
ss23464705PERLEGEN|afd1588237byFreqfwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc08/10/0409/13/04123Genomicunknown
ss37042595PGA-UW-FHCRC|LEP-015267byFreqfwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc04/07/0511/02/06125Genomicunknown
ss48427045APPLERA_GI|hCV25615670byFreqfwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc09/28/0511/03/06126Genomicunknown
ss66089890AFFY|SNP_A-1942047byFreqrev/BC/Tttggatatttggatcagtttctggaaggcata10/27/0603/31/08127Genomicunknown
ss67544509ILLUMINA|HumanHap650Yv1.0_rs17151919fwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc11/14/0611/14/06127Genomicunknown
ss69027807PERLEGEN|PGP01588237byFreqfwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc01/30/0703/31/08127Genomicunknown
ss71217845ILLUMINA|HumanHap650Yv3.0_rs17151919fwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc04/23/0704/23/07127Genomicunknown
ss75399235ILLUMINA|ILMN_Human_1M_rs17151919fwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc08/28/0708/29/07129Genomicunknown
ss76042482AFFY|AFFY_6_1M_SNP_A-1942047rev/BC/Tttggatatttggatcagtttctggaaggcata08/28/0708/29/07130Genomicunknown
ss83213467KRIBB_YJKIM|KHS420367fwd/TA/Gcagatcctcaccagtatgccttccagaaactgatccaaatatccaacgacctggagaacc11/30/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17151919|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CAGTCACCTG GGTGCAGGAT ACAAGGGCCT GAGCCAAAGT GGTGAGGGAG GGTGGAAGGA
 GGCAGCCCAG AGAATGACCC TCCATGCCCA CGGGGAAGGC AGAGGGCTCT GAGAGCGATT
 CCTCCCACAT GCTGAGCACT TGTTCTCCCT CTTCCTCCTG CATAGCAGTC AGTCTCCTCC
 AAACAGAAAG TCACCGGTTT GGACTTCATT CCTGGGCTCC ACCCCATCCT GACCTTATCC
 AAGATGGACC AGACACTGGC AGTCTACCAA CAGATCCTCA CCAGTATGCC TTCCAGAAAC
 R
 TGATCCAAAT ATCCAACGAC CTGGAGAACC TCCGGGATCT TCTTCACGTG CTGGCCTTCT
 CTAAGAGCTG CCACTTGCCC TGGGCCAGTG GCCTGGAGAC CTTGGACAGC CTGGGGGGTG
 TCCTGGAAGC TTCAGGCTAC TCCACAGAGG TGGTGGCCCT GAGCAGGCTG CAGGGGTCTC
 TGCAGGACAT GCTGTGGCAG CTGGACCTCA GCCCTGGGTG CTGAGGCCTT GAAGGTCACT
 CTTCCTGCAA GGACTACGTT AAGGGAAGGA ACTCTGGCTT CCAGGTATCT CCAGGATTGA

  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
NC_000007.8
dbSNP Blast Analysis
UniGene Cluster ID
194236

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss23464705 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.043 0.087 0.870 0.050 0.087 0.913
AFD_CHN_PANEL Asian 48 IG 1.000 1.000
ss37042595 PGA_CEPH-PANEL European 44 IG 1.000 1.000
PGA_YORUB-PANEL Sub-Saharan African 48 IG 0.292 0.708 0.439 0.146 0.854
ss48427045 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 0.017 0.333 0.650 0.403 0.183 0.817
AGI_ASP population multiple 76 IG 0.132 0.868 0.752 0.066 0.934
ss66089890 HapMap-CEU European 118 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.017 0.333 0.650 0.183 0.817
ss69027807 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.017 0.333 0.650 0.183 0.817
ss76042482 ICMHP 10 IG 1.000 1.000
Concordant Genotype Total Sample A/A A/G G/G
ss23464705 71 1 2 68
ss37042595 47 7 39
ss48427045 983 5 77 722
ss66089890 268
ss69027807 269 1 29 239
ss76042482 5
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs17151919 1045 6 82 787
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5298 ss48427045 G/G CSHL-HAPMAP HapMap-YRI NA19120 YOR060.01 r27_ch7_YRI_affymetrix:genomewidesnp_6.0 3467762
5298 ss66089890 C/C CSHL-HAPMAP HapMap-YRI NA19120 YOR060.01 chr7-HapMap-YRI
5298 ss69027807 A/G CSHL-HAPMAP HapMap-YRI NA19120 YOR060.01 chr7-HapMap-YRI
Genotype data submitted for1107 samples from1045 individualsIndividual with multiple genotypes submission:276

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

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Revised: May 25, 2006 1:38 PM .