ASIP wt Allele

Preferred Label : ASIP wt Allele;

NCIt synonyms : AGTIL; Agouti Signaling Protein, Nonagouti Homolog (Mouse) Gene; Agouti, Mouse, Homolog of Gene; Agouti (Mouse)-Signaling Protein Gene; SHEP9; AGTI; ASP; Agouti Signaling Protein, Nonagouti Homolog Gene; Agouti Signaling Protein wt Allele; AGSW;

NCIt definition : Human ASIP wild-type allele is located within 20q11.2-q12 and is approximately 75 kb in length. This allele, which encodes agouti-signaling protein, plays a role in the regulation of melanogenesis. Homozygous polymorphism in the 3' untranslated region of the gene is associated with an increased likelihood of having dark hair and brown eyes.;

NCI Metathesaurus CUI : CL514471;

GenBank Accession Number : NM_001672;

Details

Origin ID

C131342;

UMLS CUI

C4321307;

Automatic exact mappings (from CISMeF team)
- ASPED [MedDRA LLT]
- Agouti signaling protein [OMIM gene]
- Angel-shaped phalango-epiphyseal dysplasia [ORDO Disease]
- Angel-shaped phalangoepiphyseal dysplasia [OMIM Phenotype]
- Apobec1 complementation factor [OMIM gene]
- Aspirate [LOINC System]
- Autophagy-related 5 [OMIM gene]
- Complement component 3 [OMIM gene]
- Naja haje (organism) [SNOMED CT concept]
- Rhophilin associated tail protein 1-like [OMIM gene]
- Skin-Hair-Eye Pigmentation, Variation In, 9 [MeSH Supplementary Concept]
- Skin/hair/eye pigmentation, variation in, 9 [OMIM Phenotype]
- aspartoacylase [ORDO Gene]
- assembly factor for spindle microtubules [ORDO Gene]
- viperidae [MeSH Descriptor]
OMIM relation
- Agouti signaling protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Melanogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Intercellular Communication Process [NCIt concept]
- Melanogenesis [NCIt concept]
- Receptor Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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