Hs04723946_cn

• Gene Symbol: B3GALNT1
• Assay Reference Genome Location: Chr.3:161103340 on build GRCh38
• Cytoband: 3q26.1

Target Gene Details

• Entrez Gene ID: 8706
• Gene Name: beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
• Gene Aliases: B3GALT3, GLCT3, GLOB, Gb4Cer, P, P1, beta3Gal-T3, galT3
• Location: Chr.3:161083883-161105528 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B3GALNT1	NM_001038628.1			NP_001033717.1
	NM_003781.3			NP_003772.1
	NM_033167.2			NP_149357.1
	NM_033168.2			NP_149358.1
	NM_033169.2			NP_149359.1
	XM_005247859.4			XP_005247916.1
	XM_005247861.3			XP_005247918.1
	XM_005247862.3			XP_005247919.1
	XM_005247864.3			XP_005247921.1
	XM_006713803.3			XP_006713866.1
	XM_006713804.3			XP_006713867.1
	XM_006713805.3			XP_006713868.1
	XM_017007402.1			XP_016862891.1
	XM_017007403.1			XP_016862892.1
	XM_017007404.1			XP_016862893.1
	XM_017007405.1			XP_016862894.1
	XM_017007406.1			XP_016862895.1
	XM_017007407.1			XP_016862896.1
	XM_017007408.1			XP_016862897.1
	XM_017007409.1			XP_016862898.1
	XM_017007410.1			XP_016862899.1
	XM_017007411.1			XP_016862900.1
	XM_017007412.1			XP_016862901.1
	XM_017007413.1			XP_016862902.1
	AB050856.1			BAB17691.1
	AF154848.1			AAF72106.1
	AK022491.1			BAB14055.1
	AK095917.1
	AK223439.1			BAD97159.1
	AY359049.1			AAQ89408.1
	BC028571.1			AAH28571.1
	BC047618.1			AAH47618.1
	DA188324.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv592128	Chr.3:160795732 - 161829856 on Build GRCh38	Loss	B3GALNT1 NMD3 LOC101243545 PPM1L OTOL1 SPTSSB

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation
oligosaccharide biosynthetic process

Function(s)

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