ANK1 wt Allele

Preferred Label : ANK1 wt Allele;

NCIt synonyms : ANK; SPH2; SPH1; Ankyrin 1, Erythrocytic wt Allele;

NCIt definition : Human ANK1 wild-type allele is located in the vicinity of 8p11.1 and is approximately 243 kb in length. This allele, which encodes ankyrin-1 protein, plays a role in erythrocyte morphology. Mutation of the gene is associated with spherocytosis.;

GenBank Accession Number : M28880;

Details

Origin ID

C84302;

UMLS CUI

C2827376;

OMIM relation
- Ankyrin 1 [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
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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