Hs04033894_cn

• Gene Symbol: COLGALT1
• Assay Reference Genome Location: Chr.19:17556440 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
COLGALT1	NM_024656.3			NP_078932.2
	AK074941.1			BAC11307.1
	AK075541.1			BAC11684.1
	BC108308.1			AAI08309.1

Target Gene Details

• Entrez Gene ID: 199786
• Gene Name: family with sequence similarity 129 member C
• Gene Aliases: BCNP1
• Location: Chr.19:17523301-17556755 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM129C	XM_011527786.2	15	3135	XP_011526088.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2422429	Chr.19:17529868 - 17579053 on Build GRCh38	Duplication	COLGALT1 FAM129C

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Function(s)

procollagen galactosyltransferase activity