Detailed Information

SNP ID FP0000238 Gene Symbol UGT1A1 Chromosome 2q37 Original ID MPJ6_U1A017 Site UGT1A1 Exon 1 Reference Sequence AF297093.1 Position 1 175253 Position 4 1A1 211 Obserbed G/A 5'-Flanking CAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGAC 3'-Flanking GAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGT Effect Gly71Arg Frequency 92/602 Method Sequencing 1st Forward Primer UGT1A1CAR-Ex5ZF GGTGGTGGGAGTGAGTTTAGT 1st Reverse Primer UGT1A1CAR-Ex5ZR AGAGGGAAATAGTGGACAGAA 2nd Forward Primer UGT1A11stF TATCTCTGAAAGTGAACTCCCTG 2nd Reverse Primer UGT1A11stR GCACACAGAGTAAAATGTCCAA SQ Forward Primer UT1A11F1 GAACCTCTGGCAGGAGCAAAG SQ Reverse Primer UGT1A1R3-2 ATGCCCGAGACTAACAAAAGAC Reference 1 Aono et al., 1995, Lancet, 345, 958-959. Reference 2 Saeki et al., 2006, Pharmacogenomics J., 6, 63-75. Haplotype 1A1*6 Comment 1 Position 4: cDNA-based numbering. Adenine of the initiation codon ATG is numbered +1. Comment 2 Frequency and haplotype: Reference 2. Reduced activity Release Date 2004/7/15 Update Date 2005/10/6

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