refSNP ID: rs2296807 Organism: human (Homo sapiens) Molecule Type: Genomic Created/Updated in build: 100/129 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_001017931.1:c.157G>A NP_001017931.1:p.G53S NT_011630.14:g.2843805C>T 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 ss69261956 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2296807 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 ss3241035 YUSUKE|IMS-JST051120 fwd/B C/T agtccagtgctccctcgtctctctcttgac aggtgtataatcctgactttcaattggtgg 09/05/01 10/25/06 100 Genomic unknown ss69261956 PERLEGEN|PGP04777461 fwd/B C/T agtccagtgctccctcgtctctctcttgac aggtgtataatcctgactttcaattggtgg 01/30/07 08/14/07 127 Genomic unknown ss74818869 AFFY|SNP_M-319147 fwd/B C/T agtccagtgctccctcgtctctctcttgac aggtgtataatcctgactttcaattggtgg 08/09/07 08/09/07 128 Genomic unknown ss74865287 ILLUMINA|ILMN_Human_1M_rs2296807 fwd/B C/T agtccagtgctccctcgtctctctcttgac aggtgtataatcctgactttcaattggtgg 08/28/07 08/29/07 129 Genomic unknown ss76552760 AFFY|AFFY_6_1M_SNP_A-8413916 fwd/B C/T tcgtctctctcttgac aggtgtataatcctga 08/28/07 08/30/07 129 Genomic unknown   Fasta sequence   (Legend) >gnl|dbSNP|rs2296807|allelePos=65|totalLen=129|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129 TAGGCATTCT TCCTCTCCCA CGCTTCACCT TGGAAGTCCA GTGCTCCCTC GTCTCTCTCT TGAC Y AGGTGTATAA TCCT GACTTTCAAT TGGTGGTTCC TCTTGTTGAA GCTGGTCATT ACTGGGCAGC   GeneView GeneView via analysis of contig annotation: PAGE3 P antigen family, member 3 (prostate associated) View variations for gene: Include clinically associated: in gene region cSNP has frequency double hit Group Label Contig->mRNA Gene Model (contig mRNA transcript) Color Legend reference NT_011630->NM_001017931 sv function HuRef NW_001842370->XM_001714623 sv function Celera NW_927709->NM_001017931 sv function " Group label Contig-->mRNA-->Protein Contig position mRNA orientation mRNA pos Function dbSNP allele Protein residue Codon pos Amino acid pos reference NT_011630->NM_001017931->NP_001017931 2843806 reverse 466 missense A Ser [S] 1 53 contig reference G Gly [G] 1 53 HuRef NW_001842370->XM_001714623->XP_001714675 2445060 forward 406 missense A Ser [S] 1 136 contig reference G Gly [G] 1 136 Celera NW_927709->NM_001017931->NP_001017931 2286046 reverse 466 missense A Ser [S] 1 53 contig reference G Gly [G] 1 53 GeneView: no link established by BLAST analysis of mRNA sequences   Integrated Maps: NCBI MapViewer:  rs2296807 maps exactly once on NCBI human chromosome X Chromosome Contig accession Contig position Chromosome position Hit orientation Contig Allele Assembly Type Group label Contig label Neighbor SNP SNP_flank position X NW_001842370.2 2445060 52338760 minus G alt_assembly_8 HuRef HuRef view 64 X NT_011630.14 2843806 55306445 plus C ref_assembly reference reference view 64 X NW_927709.1 2286046 59124808 plus C alt_assembly_1 Celera Celera view 64   NCBI Resource Links Submitter-Referenced GenBank NC_000023.8 dbSNP Blast Analysis GenBank HTGS Finished: AL158819.14 NC_000023.9   Population Diversity Sample Ascertainment Genotype Detail Alleles ss# Population Individual Group Chrom. Sample Cnt. Source C/C C/T T/T HWP C T ss3241035 HapMap-CEU European 90 IG 0.500 1.000 HapMap-HCB Asian 68 IG 0.467 0.044 1.000 0.956 0.044 HapMap-JPT Asian 66 IG 0.432 0.068 0.752 0.909 0.091 HapMap-YRI Sub-Saharan African 90 IG 0.500 1.000 ss69261956 HapMap-CEU European 120 IG 1.000 1.000 HapMap-HCB Asian 90 IG 0.933 0.044 0.022 0.956 0.044 HapMap-JPT Asian 88 IG 0.864 0.068 0.068 0.898 0.102 HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000 Summary Average Het.+/- std err: Individual Count Founders Count Individual Overlap Genotype Conflict 0.056+/-0.157 270 210 0 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 .