Transcript: ENST00000537751.1 CHM-201

Description

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

Gene Synonyms

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

Location

About this transcript

This transcript has 12 exons, is annotated with 17 domains and features, is associated with 57901 variant alleles and maps to 399 oligo probes.

Gene

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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000537751.1	CHM-201	2000	505aa	ENSP00000441728.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DRL9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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		-	-	-

Summary

Statistics

Exons: 12, Coding exons: 11, Transcript length: 2,000 bps, Translation length: 505 residues

Version

ENST00000537751.1

Type

Protein coding

Annotation Method

Annotation produced by the Ensembl genebuild.

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.