USH2A wt Allele

Preferred Label : USH2A wt Allele;

NCIt synonyms : US2; Usherin wt Allele; dJ1111A8.1; RP39; Usher Syndrome 2A (Autosomal Recessive, Mild) Gene; USH2;

NCIt definition : Human USH2A wild-type allele is located in the vicinity of 1q41 and is approximately 801 kb in length. This allele, which encodes usherin protein, plays a role in hearing and sight. Mutations in the gene are associated with retinitis pigmentosa 39 and Usher syndrome type 2A.;

GenBank Accession Number : AF055580;

Details

Origin ID

C213533;

OMIM relation
- Usherin [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q41 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Hearing [NCIt concept]
- Sight [NCIt concept]

Keyword's position in hierarchy(ies) :

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