Detailed Information

SNP ID FP0001293 Gene Symbol VDR Chromosome 12q13.11 Original ID MPJ6_VDR_031 rs10735810 rs2228570 Site Exon 2 Reference Sequence NT_029419.11 Position 1 10416201 Position 4 2 Obserbed T/C 5'-Flanking CAGCTGGCCCTGGCACTGACTCTGGCTCTGACCGTGGCCTGCTTGCTGTTCTTACAGGGA 3'-Flanking GGAGGCAATGGCGGCCAGCACTTCCCTGCCTGACCCTGGAGACTTTGACCGGAACGTGCC Effect Met1Thr (FokI) Frequency 136/214 Method Sequencing 1st Forward Primer VDR-ZF1 GCTAAAAGTGGCAGAAAACATCCTG 1st Reverse Primer VDR-ZR1 TTGTGTTGACAGAGAGACCCCAAGT 2nd Forward Primer Ex2F1 GTGAACCACTAAACCCAAAT 2nd Reverse Primer Ex2R1 GAAGGAGATGTGAAAAATGC SQ Forward Primer Ex2F1 GTGAACCACTAAACCCAAAT SQ Reverse Primer Ex2R1 GAAGGAGATGTGAAAAATGC Reference 1 Arai et al., 1997, J. Bone Miner. Res., 12, 915-921. Reference 2 Wong et al., 2003, Carcinogenesis, 24, 1091-1095; Oakley-Girvan et al., 2004, Cancer Epidemiol. Biomarkers Prev., 13, 1325-1330. Reference 3 Ukaji et al., 2007, Drug Metab. Pharmacokinet., 22, 462-467. Haplotype Comment 1 Position 4: cDNA-based position. A of the initiation codon ATG is +1. Comment 2 Frequency: Reference 3. Release Date 2008/12/18

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SQ=Sequencing; TP=Typing; IVS=Intervening Sequence; CYPalleles, http://www.imm.ki.se/CYPalleles/ .