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注释ID
1184642823
变量_单倍型
TPMT*1, TPMT*2
基因
TPMT
药物名称(英)
药物名称(中)
PMID
7862671
类型
Metabolism/PK
含义
not stated
记事
Please note that in this paper the TPMT*2 allele was referred to by its nucleotide change G238C (negative chromosomal strand)/amino acid change Ala80Pro. The TPMT nomenclature committee lists this variant as TPMT*2. The *2 allele (or G, when complemented to the plus chromosomal strand) had an approximately 100-fold reduction in catalytic activity compared to *1 allele (C allele).
专家论述
TPMT *2 is associated with decreased catalytic activity of TPMT in yeast as compared to TPMT *1.
等位基因
*2
专家评论
变体注释摘要
id研究类型特征类型
26773 cohort Unknown
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