Hs02157760_cn

• Gene Symbol: B3GALNT2
• Assay Reference Genome Location: Chr.1:235454290 on build GRCh38
• Cytoband: 1q42.3

Target Gene Details

• Entrez Gene ID: 148789
• Gene Name: beta-1,3-N-acetylgalactosaminyltransferase 2
• Gene Aliases: B3GalNAc-T2, MDDGA11
• Location: Chr.1:235440654-235504481 on Build GRCh38
• Assay Gene Location: Overlaps Intron 10 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B3GALNT2	NM_152490.4			NP_689703.1
	XM_006711749.3			XP_006711812.1
	XM_017000394.1			XP_016855883.1
	XM_017000395.1			XP_016855884.1
	AB209046.1			BAD92283.1
	AK311626.1
	BC029564.1			AAH29564.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1013571	Chr.1:235210731 - 235587805 on Build GRCh38	Gain	TBCE GGPS1 B3GALNT2 ARID4B GNG4
dgv30n21	Chr.1:235198002 - 235605078 on Build GRCh38	Gain	TBCE GGPS1 B3GALNT2 ARID4B GNG4
esv3575794	Chr.1:235370375 - 235549222 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4
nsv549392	Chr.1:235375705 - 235548388 on Build GRCh38	Gain	TBCE B3GALNT2 GNG4
nsv1011288	Chr.1:235376656 - 235666302 on Build GRCh38	Gain	TBCE B3GALNT2 LYST GNG4
nsv468406	Chr.1:235395391 - 235463092 on Build GRCh38	Gain	TBCE B3GALNT2
dgv586n100	Chr.1:235367709 - 235547476 on Build GRCh38	Gain	TBCE B3GALNT2
dgv587n100	Chr.1:235445295 - 235531886 on Build GRCh38	Gain	TBCE B3GALNT2

More Information

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation
protein O-linked glycosylation

Function(s)

acetylglucosaminyltransferase activity
acetylgalactosaminyltransferase activity
galactosyltransferase activity