Due to Fluorouracil, Allele T is associated with decrease catalytic activity of DPYD as compared to Allele G.
(References:
Hishinuma et al., Drug Metab Dispos, 2018
;
Data Source:
PharmGkb
)
- ID
- V003912
- Class
- Variation
- Xrefs
-
dbSNP:rs56005131
- GRCh37
-
chr1:97700547 G>T
- GRCh38
-
chr1:97234991 G>T
- Aliases
-
NC_000001.11:g.97234991G>TNC_000001.10:g.97700547G>TNG_008807.2:g.691069C>ANM_000110.4:c.2303C>ANM_000110.3:c.2303C>AXM_006710397.4:c.2303C>AXM_006710397.3:c.2303C>AXM_006710397.2:c.2303C>AXM_006710397.1:c.2303C>AXM_005270562.3:c.2087C>AXM_005270562.2:c.2087C>AXM_005270562.1:c.2087C>AXM_017000507.2:c.2192C>AXM_017000507.1:c.2192C>AXM_047448076.1:c.2075C>AXM_047448077.1:c.1976C>ANP_000101.2:p.Thr768LysXP_006710460.1:p.Thr768LysXP_005270619.2:p.Thr696LysXP_016855996.1:p.Thr731LysXP_047304032.1:p.Thr692LysXP_047304033.1:p.Thr659Lys|SEQ=[G/T]|LEN=1|GENE=DPYD:1806DPYD-AS1:100873932
- Description
-
missense_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant
More
- ID
- C000452
- Class
- Drug
- Xrefs
-
DrugBank:DB00544
- Aliases
-
5-Fluoropyrimidine-2,4-dione5-Fluorouracil5-Fluracil5-FUFluoro UracilFluouracil
- Description
-
A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the thymidylate synthetase conversion of deoxyuridylic acid to thymidylic acid.
More
- ID
- G012667
- Class
- Gene
- Xrefs
-
HGNC:3012
- Aliases
-
DPD, DHPDHase
- Description
-
dihydropyrimidine dehydrogenase
More