Human (GRCh38.p14)
Description

retinoid isomerohydrolase RPE65 [Source:HGNC Symbol;Acc:HGNC:10294]

Gene Synonyms

BCO3, LCA2, RD12, RP20

Location

Chromosome 1: 68,428,822-68,451,103 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 5 transcripts (splice variants), 274 orthologues, 2 paralogues and is associated with 10 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000262340.6RPE65-2012605533aaENSP00000262340.5
 
Protein coding
CCDS643Q16518 NM_000329.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000713937.1RPE65-2034141412aaENSP00000519234.1
 
Nonsense mediated decay
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ENST00000713936.1RPE65-202392086aaENSP00000519233.1
 
Nonsense mediated decay
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ENST00000713938.1RPE65-2042306217aaENSP00000519235.1
 
Nonsense mediated decay
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ENST00000713939.1RPE65-205209742aaENSP00000519236.1
 
Nonsense mediated decay
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