ASNS wt Allele

Preferred Label : ASNS wt Allele;

NCIt synonyms : ASNSD; Human Complement for Hamster Temperature-Sensitive Mutant ts11 Gene; TS11; Asparagine Synthetase (Glutamine-Hydrolyzing) wt Allele;

NCIt definition : Human ASNS wild-type allele is located in the vicinity of 7q21.3 and is approximately 20 kb in length. This allele, which encodes asparagine synthetase [glutamine-hydrolyzing] protein, plays a role in amino acid conversion. A fusion involving this gene and the KMT2E gene may be associated with early T-cell precursor acute lymphoblastic leukemia (ETP-ALL).;

NCI Metathesaurus CUI : CL971011;

GenBank Accession Number : M27396;

PubMed : 31026031;

Details

Origin ID

C162410;

UMLS CUI

C5203152;

Automatic exact mappings (from CISMeF team)
- Asparagine synthetase deficiency [OMIM Phenotype]
OMIM relation
- Asparagine synthetase [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
- 7q21.3 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- Nitrogen Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]

Keyword's position in hierarchy(ies) :

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