RefSNP Organism: human (Homo sapiens) Molecule Type: Genomic Created/Updated in build: 107/130 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_138790.2:c.403G>A NP_620145.2:p.Val135Met NT_026437.11:g.86396249G>A Links , Linkout SNP Details are organized in the following sections: Submission Fasta Resource GeneView Map Diversity Validation   Submitter records for this RefSNP Cluster The submission ss69169759 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3803295 during BLAST analysis for the current build. NCBI Assay ID Handle|Submitter ID Validation Status ss to rs Orientation /Strand Alleles 5' Near Seq 30 bp 3' Near Seq 30 bp Entry Date Update Date Build Added Molecule Type Freq Warning Ancestral Allele Success Rate ss4989681 YUSUKE|IMS-JST162108 fwd/B C/T gccctgtgagggaccagtagtatgaagcca gtggacgctctcctgggcagtgtccagcag 08/12/02 10/25/06 107 Genomic unknown ss69169759 PERLEGEN|PGP04772303 rev/T A/G ctgctggacactgcccaggagagcgtccac tggcttcatactactggtccctcacagggc 01/30/07 03/31/08 127 Genomic unknown ss74886982 ILLUMINA|ILMN_Human_1M_rs3803295 fwd/B C/T gccctgtgagggaccagtagtatgaagcca gtggacgctctcctgggcagtgtccagcag 08/28/07 08/29/07 129 Genomic unknown   Fasta sequence   (Legend) >gnl|dbSNP|rs3803295|allelePos=65|totalLen=129|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 AGCTGGGAAG ACGAGTCGTT GACCCCGATG TCAGGCCCTG TGAGGGACCA GTAGTATGAA GCCA Y GTGGACGCTC TCCT GGGCAGTGTC CAGCAGCTGC AGCCAGGCCT GGCCCAGAGG CTGGGCAGAG   GeneView 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: 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 Resource Submitter-Referenced GenBank NT_010169.4 dbSNP Blast Analysis UniGene Cluster ID 407101   Population Diversity Sample Ascertainment Genotype Detail Alleles ss# Population Individual Group Chrom. Sample Cnt. Source C/C C/T HWP C T ss4989681 HapMap-CEU European 120 IG 1.000 1.000 HapMap-HCB Asian 90 IG 0.956 0.044 1.000 0.978 0.022 HapMap-JPT Asian 88 IG 1.000 1.000 HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000 ss69169759 HapMap-CEU European 120 IG 1.000 1.000 HapMap-HCB Asian 90 IG 0.956 0.044 0.978 0.022 HapMap-JPT Asian 88 IG 1.000 1.000 HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000 Concordant Genotype Total Sample C/C C/T ss69169759 717 RefSNP Genotype Summary Total Individual C/C C/T rs3803295 777 Discordant Genotypes: Indiviudal SampleID SubSNP(ss) Genotype Population Handle Submitter Population Submitter SampleID SampleID Alias Submission Batch NCBI ProbeID 159 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12146 CEPH1334.12 r27_ch14_CEU_illumina:human_1m_beadchip 162 ss69169759 N/N CSHL-HAPMAP HapMap-CEU NA07019 CEPH1340.02 r27_ch14_CEU_illumina:human_1m_beadchip 172 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA07056 CEPH1340.12 r27_ch14_CEU_illumina:human_1m_beadchip 187 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA06985 CEPH1341.14 r27_ch14_CEU_illumina:human_1m_beadchip 225 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12043 CEPH1346.11 r27_ch14_CEU_illumina:human_1m_beadchip 226 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12044 CEPH1346.12 r27_ch14_CEU_illumina:human_1m_beadchip 252 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA11839 CEPH1349.13 r27_ch14_CEU_illumina:human_1m_beadchip 361 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA11993 CEPH1362.14 r27_ch14_CEU_illumina:human_1m_beadchip 399 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA10830 CEPH1408.01 r27_ch14_CEU_illumina:human_1m_beadchip 439 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12249 CEPH1416.12 r27_ch14_CEU_illumina:human_1m_beadchip 465 ss69169759 N/N CSHL-HAPMAP HapMap-CEU NA12004 CEPH1420.10 r27_ch14_CEU_illumina:human_1m_beadchip 535 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12750 CEPH1444.13 r27_ch14_CEU_illumina:human_1m_beadchip 546 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12761 CEPH1447.10 r27_ch14_CEU_illumina:human_1m_beadchip 611 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12865 CEPH1459.02 r27_ch14_CEU_illumina:human_1m_beadchip 618 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12872 CEPH1459.09 r27_ch14_CEU_illumina:human_1m_beadchip 620 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12874 CEPH1459.11 r27_ch14_CEU_illumina:human_1m_beadchip 621 ss69169759 G/G CSHL-HAPMAP HapMap-CEU NA12875 CEPH1459.12 r27_ch14_CEU_illumina:human_1m_beadchip 5142 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19194 YOR112.01 r27_ch14_YRI_imsut-riken:genotyping 5156 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18603 CH18603 r27_ch14_CHB_illumina:human_1m_beadchip 5158 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18605 CH18605 r27_ch14_CHB_illumina:human_1m_beadchip 5161 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18572 CH18572 r27_ch14_CHB_illumina:human_1m_beadchip 5162 ss69169759 N/N CSHL-HAPMAP HapMap-HCB NA18547 CH18547 r27_ch14_CHB_illumina:human_1m_beadchip 5163 ss69169759 N/N CSHL-HAPMAP HapMap-HCB NA18609 CH18609 r27_ch14_CHB_illumina:human_1m_beadchip 5164 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18550 CH18550 r27_ch14_CHB_illumina:human_1m_beadchip 5165 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18608 CH18608 r27_ch14_CHB_illumina:human_1m_beadchip 5166 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18552 CH18552 r27_ch14_CHB_illumina:human_1m_beadchip 5169 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18564 CH18564 r27_ch14_CHB_illumina:human_1m_beadchip 5174 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18571 CH18571 r27_ch14_CHB_illumina:human_1m_beadchip 5176 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18621 CH18621 r27_ch14_CHB_illumina:human_1m_beadchip 5177 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18594 CH18594 r27_ch14_CHB_illumina:human_1m_beadchip 5178 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18622 CH18622 r27_ch14_CHB_illumina:human_1m_beadchip 5180 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18623 CH18623 r27_ch14_CHB_illumina:human_1m_beadchip 5183 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18624 CH18624 r27_ch14_CHB_illumina:human_1m_beadchip 5186 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18582 CH18582 r27_ch14_CHB_illumina:human_1m_beadchip 5187 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18633 CH18633 r27_ch14_CHB_illumina:human_1m_beadchip 5192 ss69169759 G/G CSHL-HAPMAP HapMap-HCB NA18637 CH18637 r27_ch14_CHB_illumina:human_1m_beadchip 5193 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18942 JA18942 r27_ch14_JPT_illumina:human_1m_beadchip 5194 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18940 JA18940 r27_ch14_JPT_illumina:human_1m_beadchip 5199 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18945 JA18945 r27_ch14_JPT_illumina:human_1m_beadchip 5200 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18949 JA18949 r27_ch14_JPT_illumina:human_1m_beadchip 5204 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18964 JA18964 r27_ch14_JPT_illumina:human_1m_beadchip 5205 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18953 JA18953 r27_ch14_JPT_illumina:human_1m_beadchip 5210 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18961 JA18961 r27_ch14_JPT_illumina:human_1m_beadchip 5211 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18972 JA18972 r27_ch14_JPT_illumina:human_1m_beadchip 5215 ss69169759 A/G CSHL-HAPMAP HapMap-JPT NA18975 JA18975 r27_ch14_JPT_illumina:human_1m_beadchip 5217 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18976 JA18976 r27_ch14_JPT_illumina:human_1m_beadchip 5222 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18981 JA18981 r27_ch14_JPT_illumina:human_1m_beadchip 5223 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18971 JA18971 r27_ch14_JPT_illumina:human_1m_beadchip 5228 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA18994 JA18994 r27_ch14_JPT_illumina:human_1m_beadchip 5235 ss69169759 G/G CSHL-HAPMAP HapMap-JPT NA19007 JA19007 r27_ch14_JPT_illumina:human_1m_beadchip 5241 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA18506 YOR009.01 r27_ch14_YRI_imsut-riken:genotyping 5256 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA18854 YOR018.01 r27_ch14_YRI_imsut-riken:genotyping 5257 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA18852 YOR018.02 r27_ch14_YRI_imsut-riken:genotyping 5264 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA18862 YOR024.03 r27_ch14_YRI_imsut-riken:genotyping 5267 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA18913 YOR028.03 r27_ch14_YRI_imsut-riken:genotyping 5272 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19102 YOR042.02 r27_ch14_YRI_imsut-riken:genotyping 5276 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19138 YOR043.03 r27_ch14_YRI_imsut-riken:genotyping 5288 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19210 YOR050.03 r27_ch14_YRI_imsut-riken:genotyping 5294 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19160 YOR056.03 r27_ch14_YRI_imsut-riken:genotyping 5302 ss69169759 G/G CSHL-HAPMAP HapMap-YRI NA19140 YOR071.02 r27_ch14_YRI_imsut-riken:genotyping Genotype data submitted for 777 samples from 777 individuals Individual with multiple genotypes submission: 0   Validation Summary: Validation status Marker displays Mendelian segregation PCR results confirmed in multiple reactions Homozygotes detected in individual genotype data UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .