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	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, 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	-	-

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