VKORC1 wt Allele

Preferred Label : VKORC1 wt Allele;

NCIt synonyms : MST134; Vitamin K Epoxide Reductase Complex, Subunit 1 wt Allele; VKCFD2; UNQ308; MST576;

NCIt definition : Human VKORC1 wild-type allele is located in the vicinity of 16p11.2 and is approximately 4 kb in length. This allele, which encodes vitamin K epoxide reductase complex subunit 1 protein, is involved in the mediation of vitamin K processing, and is essential for blood clotting. Mutation of the wild-type allele leads to aberrations in vitamin K-dependent clotting.;

GenBank Accession Number : NM_024006;

Details

Origin ID

C52259;

UMLS CUI

C1710603;

OMIM relation
- Vitamin k epoxide reductase complex, subunit 1 [OMIM gene]
See also inter- (CISMeF)
- Vitamin k-dependent clotting factors, combined deficiency of, 2 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p11.2 [NCIt concept]
gene_plays_role_in_process
- Coagulation Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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