Gene: EXT1 ENSG00000182197

Description

exostosin glycosyltransferase 1 [Source:HGNC Symbol;Acc:3512]

Gene Synonyms

EXT, LGCR, LGS, TRPS2, TTV, ttv

Location

GRCh37:CM000670.1

About this gene

This gene has 3 transcripts (splice variants), 4 paralogues and is associated with 66 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000378204.2	EXT1-001	8270	746aa	ENSP00000367446.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6324	D7RTA7 Q16394 S5Y321 T2FFJ4	NM_000127.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000436216.1	EXT1-003	700	207aa	ENSP00000400372.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		S5Y321	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000437196.1	EXT1-004	1446	41aa	ENSP00000407299.1	Nonsense mediated decay		F8WF54	-	-

Summary