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Human (GRCh37.p13)
Description

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

Gene Synonyms

DXS540, GGTA, HSD-32, REP-1, REP1, TCD

Location

Chromosome X: 85,116,185-85,302,566 reverse strand.

GRCh37:CM000685.1

About this gene

This gene has 6 transcripts (splice variants), 3 paralogues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000357749.2CHM-0015442653aaENSP00000350386.2
 
Protein coding
CCDS14454B4DRL9 P24386 NM_000390
NP_000381
GENCODE basic
ENST00000358786.4CHM-0022820110aaENSP00000362228.3
 
Protein coding
CCDS48139P24386 NM_001145414
NP_001138886
GENCODE basic
ENST00000537751.1CHM-2012000505aaENSP00000441728.1
 
Protein coding
B4DRL9 -GENCODE basic
ENST00000467744.2CHM-0042040No protein-
 
Processed transcript
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ENST00000483950.1CHM-003678No protein-
 
Processed transcript
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ENST00000487515.1CHM-005309No protein-
 
Processed transcript
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Gene-based displays