Entrez gene ID | | 55812 |
Official gene symbol | | SPATA7 |
Full name | | spermatogenesis associated 7 |
Aliases | | ,DKFZp686D07199,HSD-3.1,HSD3,LCA3,MGC102934, |
Gene summary | | This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q31.3 |
Gene position | | 88851988 - 88904804 Map Viewer |
Gene orientation | | plus |
Gene size | | 52817 bp |
Gene sequence |
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OMIM ID | | 609868 |