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 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000357749.2 | CHM-001 | 5442 | 653aa | ENSP00000350386.2 | Protein coding | CCDS14454 | B4DRL9 P24386 | NM_000390.2 | GENCODE basic, |
ENST00000358786.4 | CHM-002 | 2820 | 110aa | ENSP00000362228.3 | Protein coding | CCDS48139 | P24386 | NM_001145414.1 | GENCODE basic, |
ENST00000537751.1 | CHM-201 | 2000 | 505aa | ENSP00000441728.1 | Protein coding | B4DRL9 | - | GENCODE basic, | |
ENST00000467744.2 | CHM-004 | 2040 | No protein | - | Processed transcript | - | - | - | |
ENST00000483950.1 | CHM-003 | 678 | No protein | - | Processed transcript | - | - | - | |
ENST00000487515.1 | CHM-005 | 309 | No protein | - | Processed transcript | - | - | - |