Three Novel Single Nucleotide Polymorphisme (SNPs) of CYP2S1 Gene in Japanese Individuals

Summary:We analyzed ail nine exons and exon-intron junctions of the CYP2S1 gene in 200 Japanese individuals and identified the following three novel single nucleotide polymorphisms (SNPs): 4612G > A (Glu147Glu) in exon 3, 5478C > T (Leu230Leu) and 5479T > G (Leu230Arg, CYP2S1 *SA) in exon 5. The allele frequencies were 0.013 for 4612G > A, 0.058 for 5478C > T, and 0.003 for 5479T > G. In addition, a known SNP 1324C > G (Pro74Pro) was detected at a frequency of 0.300.