SNAP25 wt Allele

Preferred Label : SNAP25 wt Allele;

NCIt synonyms : SUP; Resistance To Inhibitors of Cholinesterase 4 Homolog Gene; Synaptosomal-Associated Protein, 25kDa Gene; Synaptosomal-Associated Protein, 25kD Gene; bA416N4.2; dJ1068F16.2; RIC4; SNAP; CMS18; Synaptosomal-Associated Protein, 25-kD Gene; RIC-4; Synaptosomal Associated Protein 25kDa wt Allele; SNAP-25; SEC9;

NCIt definition : Human SNAP25 wild-type allele is located within 20p12-p11.2 and is approximately 89 kb in length. This allele, which encodes synaptosomal-associated protein 25, is involved in vesicular trafficking, neurotransmitter release and plasma membrane recycling. Mutation of the gene may be associated with congenital myasthenic syndrome-18 and certain polymorphisms may be linked to attention deficit-hyperactivity disorder.;

NCI Metathesaurus CUI : CL509315;

GenBank Accession Number : NM_130811;

Details

Origin ID

C127883;

UMLS CUI

C4284285;

Automatic exact mappings (from CISMeF team)
- Epimine resin (substance) [SNOMED CT concept]
- S-nitro-N-acetylpenicillamine [MeSH Supplementary Concept]
- SNAP receptor activity [GO term]
- Synaptosomal-associated protein, 25-kd [OMIM gene]
- soluble NSF attachment protein activity [GO term]
- synaptosome associated protein 25 [ORDO Gene]
OMIM relation
- Synaptosomal-associated protein, 25-kd [OMIM gene]
See also inter- (CISMeF)
- Myasthenic syndrome, congenital, 18 [OMIM Phenotype]
- congenital myasthenic syndrome 18 [DO Concept]
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_is_element_in_pathway
- Botulin Pathway [NCIt concept]
- Botulinum Toxin Pathway [NCIt concept]
gene_plays_role_in_process
- Cellular Secretion [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Membrane Fusion Activity [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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