Gene: CHM ENSG00000188419

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

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000357749.2	CHM-001	5442	653aa	ENSP00000350386.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14454	B4DRL9 P24386	NM_000390.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000358786.4	CHM-002	2820	110aa	ENSP00000362228.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS48139	P24386	NM_001145414.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000537751.1	CHM-201	2000	505aa	ENSP00000441728.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DRL9	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000467744.2	CHM-004	2040	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000483950.1	CHM-003	678	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000487515.1	CHM-005	309	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: CHM ENSG00000188419

Summary