Transcript: ENST00000357749.2 CHM-001

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 15 exons, is annotated with 30 domains and features, is associated with 58916 variant alleles and maps to 681 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: 15, Coding exons: 15, Transcript length: 5,442 bps, Translation length: 653 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: P24386

CCDS

This transcript is a member of the Human CCDS set: CCDS14454

Version

ENST00000357749.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000057396 (version 3)

GENCODE basic gene

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