Hs05554302_cn

• Gene Symbol: B3GALT5
• Assay Reference Genome Location: Chr.21:39614667 on build GRCh38
• Cytoband: 21q22.2

Target Gene Details

• Entrez Gene ID: 10317
• Gene Name: beta-1,3-galactosyltransferase 5
• Gene Aliases: B3GalT-V, B3GalTx, B3T5, GLCT5, beta-1,3-GalTase 5, beta-3-Gx-T5, beta3Gal-T5
• Location: Chr.21:39612940-39662889 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B3GALT5	NM_001278650.1			NP_001265579.1
	XM_017028235.1			XP_016883724.1
	XM_017028236.1	1	1484	XP_016883725.1
	XM_017028237.1	1	1484	XP_016883726.1
	AK292951.1
	AY372061.1			AAR08910.1
	DQ645732.1
	DQ645733.1
	DQ645734.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv27418	Chr.21:39609713 - 39615556 on Build GRCh38	Gain	B3GALT5-AS1 B3GALT5
esv3647020	Chr.21:39531228 - 39615172 on Build GRCh38	Gain	B3GALT5-AS1 B3GALT5
esv3568195	Chr.21:39608433 - 39615629 on Build GRCh38	Loss	B3GALT5-AS1 B3GALT5
nsv1061454	Chr.21:39386047 - 39893479 on Build GRCh38	Gain	IGSF5 LCA5L B3GALT5-AS1 MIR6508 B3GALT5 SH3BGR WRB-SH3BGR WRB PCP4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation

Function(s)

UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity