注释ID

1184653801

变量_单倍型

CYP2C19*12

基因

CYP2C19

药物名称(英)

药物名称(中)

PMID

12464799

类型

Other

含义

no

记事

Genomic DNA was prepared from 92 different lymphoblastoid cell lines from healthy volunteers (Coriell Genetic Cell Repositories). Each exon, intron-exon junction, and -1.46 kb of the upstream region of CYP2C19 was amplified and products were directly sequenced. "Novel" SNPs were then introduced into plasmids, transfected into E. coli, expressed and purified. Variant proteins were then assayed for catalytic activity on mephenytoin.

专家论述

CYP2C19 *12 is associated with decreased steady-state level of CYP2C19.

等位基因

*12

专家评论

变体注释摘要

id	研究类型	特征类型
26750		Study Cohort