Hs01248137_cn

• Gene Symbol: EXTL1
• Assay Reference Genome Location: Chr.1:26031448 on build GRCh38
• Cytoband: 1p36.11

Target Gene Details

• Entrez Gene ID: 2134
• Gene Name: exostosin like glycosyltransferase 1
• Gene Aliases: EXTL
• Location: Chr.1:26021749-26036464 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EXTL1	NM_004455.2			NP_004446.2
	XM_005245779.3			XP_005245836.1
	XM_017000650.1			XP_016856139.1
	BC065528.1			AAH65528.1
	U67191.1			AAC51141.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv834513	Chr.1:25922980 - 26087385 on Build GRCh38	Gain	TRIM63 SLC30A2 EXTL1 PAFAH2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

skeletal system development
glycosaminoglycan biosynthetic process
protein glycosylation
heparan sulfate proteoglycan biosynthetic process

Function(s)

glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity