SLC6A4 wt Allele

Preferred Label : SLC6A4 wt Allele;

NCIt synonyms : 5-HTT; 5HTT; SERT; Solute Carrier Family 6 (Neurotransmitter Transporter, Serotonin), Member 4 wt Allele; hSERT; SERT1; 5-HTTLPR; OCD1; HTT;

NCIt definition : Human SLC6A4 wild-type allele is located in the vicinity of 17q11.2 and is approximately 42 kb in length. This allele, which encodes sodium-dependent serotonin transporter protein, plays a role in serotonin uptake. Polymorphism in the promoter region affects gene expression and lower gene expression is associated with depression. Coding region variations are associated with genetic susceptibility to both obsessive-compulsive disorder and alcoholism.;

GenBank Accession Number : L05568;

Details

Origin ID

C105875;

UMLS CUI

C3814032;

Automatic exact mappings (from CISMeF team)
- Huntingtin [OMIM gene]
- Point in time (spot) [LOINC time aspect]
- Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 [OMIM gene]
- huntingtin [ORDO Gene]
OMIM relation
- Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 [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
- 17q11.2 [NCIt concept]
gene_plays_role_in_process
- Endocytosis Induction [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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