Description
retinal pigment epithelium-specific protein 65kDa [Source:HGNC Symbol;Acc:10294]
Gene Synonyms
LCA2, RP20, mRPE65, rd12, sRPE65
Location
Chromosome 1: 68,894,505-68,915,642 reverse strand.
GRCh37:CM000663.1
About this gene
This gene has 1 transcript (splice variant), 3 paralogues and is associated with 10 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000262340.5 | RPE65-001 | 2610 | 533aa | ENSP00000262340.5 | Protein coding | CCDS643 | C7FEP0 Q16518 Q2EKB8 | NM_000329.2 | Ensembl Canonical, GENCODE basic, |