TABLE 3

CYP2B6 haplotype definitions and allele frequencies

Nucleotide numbering is based on the cDNA National Center for Biotechnology Information Reference Sequence NM_000767.4. Polymorphic nucleotides are shown in bold. Twelve variants are shown in bold; these are not identified by this SNP panel, and if present are defaulted to a CYP2B6*1 assignment. CYP2B6*29 and *30 are not listed because these are CYP2B7/CYP2B6 and CYP2B6/CYP2B7 hybrids, respectively, and CYP2B6*31 and *32 have not yet been released. The novel haplotypes identified in this study are labeled *N1–*N6. Allele frequencies are estimates based on PHASE (version 2.1) analysis that comprise a total of n = 271 samples including the n = 201 + 33 samples of the liver tissue panel.

CYP2B6rs34223104, −82 T>Crs3745274, 516 G>T Q172Hrs34646544, 769 G>A D257Nrs45482602, 777 C>A S259Rrs2279343, 785 A>G K262Rrs28399499, 983 T>C I328Trs3211371, 1459 C>T R487CAllele Frequency
%
*1TGGCATC56.45
*3TGGAATC0.11
*4TGGCGTC1.64
*5TGGCATT9.03
*6TTGCGTC27.55
*7TTGCGTT>0.001
*8TGGCATC0
*9TTGCATC0.45
*10TGGCATC0
*11TGGCATC0
*12TGGCATC0
*13TTGCGTC0
*14TGGCATC0
*15TGGCATC0
*16TGGCGTT>0.001
*17TGGCATC0
*18TGGCACC3.23
*19TTGCGTC0
*20TTGCGTC0
*21TGGCATC0
*22CGGCATC1.15
*23TGGCATC0
*24TGGCATC0
*25TGGCATT0
*26TTGCGTC0
*27TGGCATC0
*28TGGCATC0
*33TGGCATA0
*34TTGCGTA0
*35TGGCATC0
*36TTGCGTC0
*37TTGCGTC0
*38TTGCGTC0
*N1TTACATC0.10
*N2CGGAATC0.08
*N3TTACGTC0.09
*N4CGGCACC0.06
*N5TTGCGCC>0.001
*N6TGGCGCC>0.001