UGT1A1*28 Allele

Preferred Label : UGT1A1*28 Allele;

NCIt synonyms : UDP Glycosyltransferase 1 Family, Polypeptide A1*28 Allele; UGT1A1 (TA)7 Allele; NM_000463.2:c.-55_-54dupAT; UGT1A1, 2-BP ins, TA, TATAA Element Allele; UGT1A1*28; UGT1A1 NM_000463.2:c.-55_-54dupAT; UGT1A1 c.-55_-54insAT; UGT1A1 Variant (TA)7 Allele; UGT1A1 A(TA)7TAA Allele; UGT1A1 TATA Element ins TA Allele; UGT1A1 Variant Allele (TA)7; NM_000463.2:c.-55_-54insAT; UGT1A1 NM_000463.2:c.-55_-54insAT; UGT1A1 c.-55_-54dupAT; UGT1A1 28 Polymorphism; UDP Glucuronosyltransferase Family 1 Member A1*28 Allele;

NCIt definition : Human UGT1A1*28 allele is located in the vicinity of 2q37 and is approximately 13 kb in length. This allele, which encodes UDP-glucuronosyltransferase 1-1 protein, plays a role in the transformation of small lipophilic molecules into water-soluble metabolites. UGT1A1*28 allele has a polymorphism in the promoter region that is associated with decreased transferase activity and decreases in both tolerance and effectiveness of cancer therapeutics and antiviral drugs.;

SNP ID : rs34983651; rs3064744;

Details

Origin ID

C72564;

UMLS CUI

C2825127;

Automatic exact mappings (from CISMeF team)
- UGT1A1*28 polymorphism (disorder) [Inactive SNOMED CT concept]
OMIM relation
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Estrogen Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
genetic_biomarker_related_to
- UGT1A1*28 Allele Negative [NCIt concept]

Keyword's position in hierarchy(ies) :

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