SMC1A wt Allele

Preferred Label : SMC1A wt Allele;

NCIt synonyms : Structural Maintenance of Chromosomes 1A wt Allele; Smcb; SMC1L1; DXS423E; KIAA0178; SB1.8;

NCIt definition : Human SMC1A wild-type allele is located within Xp11.22-p11.21 and is approximately 49 kb in length. This allele, which encodes Structural Maintenance of Chromosomes Protein 1A, is involved in the maintenance of cohesion of sister chromatids during mitosis. Mutations in this gene are associated with Cornelia de Lange syndrome.;

GenBank Accession Number : S78271; NM_006306;

Details

Origin ID

C75407;

UMLS CUI

C2699250;

OMIM relation
- Structural maintenance of chromosomes 1a [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_in_chromosomal_location
- Xp11.22-p11.21 [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Mitosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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