Description

choroideremia (Rab escort protein 1) [Source:HGNC Symbol;Acc:HGNC:1940]

Synonyms

DXS540, REP-1, TCD

Location

Chromosome X: 85,861,180-86,047,562 reverse strand.

GRCh38:CM000685.2

About this gene

This gene has 5 transcripts (splice variants), 62 orthologues, 3 paralogues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
CHM-001ENST000003577495442653aaENSP00000350386
 
Protein coding
CCDS14454P24386 NM_000390
NP_000381
TSL:1GENCODE basicAPPRIS P1
CHM-002ENST000006154432821110aaENSP00000484306
 
Protein coding
CCDS48139P24386 NM_001145414
NP_001138886
TSL:1GENCODE basic
CHM-004ENST000004677442040No protein-
 
Processed transcript
---TSL:5
CHM-003ENST00000483950678No protein-
 
Processed transcript
---TSL:3
CHM-005ENST00000487515309No protein-
 
Processed transcript
---TSL:5

Gene-based displays