注释ID

1448125766

变量_单倍型

rs72547602

基因

DPYD

药物名称(英)

fluorouracil

药物名称(中)

氟尿嘧啶

PMID

24648345

类型

Metabolism/PK

含义

no

记事

Functional study. The A allele was associated with DPYD activity at 78% of wild-type, a non-significant difference. Activity measured by conversion of 5-fluorouracil to 5-dihydrofluorouracil, the product of DPYD catabolism. Using PolyPhen-2, this variant was classified as "probably damaging". Please note that this SNP was referred to by its amino acid change (D974V) within the paper.

专家论述

Allele A is not associated with activity of DPYD when assayed with fluorouracil as compared to allele T.

等位基因

A

专家评论

变体注释摘要

id	研究类型	特征类型
31604	cohort	Unknown