Hs02334080_cn

• Gene Symbol: COLGALT1
• Assay Reference Genome Location: Chr.19:17581241 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 79709
• Gene Name: collagen beta(1-O)galactosyltransferase 1
• Gene Aliases: GLT25D1
• Location: Chr.19:17555594-17583162 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COLGALT1	NM_024656.3	12	1786	NP_078932.2
	XM_005260080.4	12	1432	XP_005260137.1
	XM_011528297.2	12	1424	XP_011526599.1
	XM_011528298.2	12	1525	XP_011526600.1
	XM_011528299.2	10	1299	XP_011526601.1
	AK025982.1	5	564	BAB15308.1
	AK057140.1	2	1020
	AK074941.1	12	1790	BAC11307.1
	AK075541.1	12	1678	BAC11684.1
	AK225397.1	5	564
	BC020492.1	4	495	AAH20492.1
	BC071684.1			AAH71684.1
	BC108308.1	12	1741	AAI08309.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952419	Chr.19:17575992 - 17582091 on Build GRCh38	Deletion	COLGALT1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Function(s)

procollagen galactosyltransferase activity