Hs06292328_cn

• Gene Symbol: B3GAT1
• Assay Reference Genome Location: Chr.11:134394782 on build GRCh38
• Cytoband: 11q25

Target Gene Details

• Entrez Gene ID: 27087
• Gene Name: beta-1,3-glucuronyltransferase 1
• Gene Aliases: CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1
• Location: Chr.11:134378504-134411986 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B3GAT1	NM_018644.3			NP_061114.2
	NM_054025.2			NP_473366.1
	XM_005271506.3			XP_005271563.1
	XM_011542751.2			XP_011541053.1
	XM_011542753.2			XP_011541055.1
	XM_017017551.1			XP_016873040.1
	AB029396.1			BAA96077.1
	BC010466.1			AAH10466.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv556608	Chr.11:134348406 - 134876236 on Build GRCh38	Gain	LOC283177 GLB1L2 B3GAT1
nsv521581	Chr.11:134126584 - 134772738 on Build GRCh38	Gain	JAM3 NCAPD3 LOC283177 VPS26B THYN1 ACAD8 GLB1L2 GLB1L3 B3GAT1
dgv1306n100	Chr.11:134373155 - 134500539 on Build GRCh38	Gain	LOC283177 GLB1L2 B3GAT1
dgv2206n54	Chr.11:134381883 - 134555421 on Build GRCh38	Gain	LOC283177 B3GAT1
dgv4e196	Chr.11:134304439 - 134744665 on Build GRCh38	Duplication	LOC283177 GLB1L2 GLB1L3 B3GAT1
dgv1305n100	Chr.11:134363845 - 134416469 on Build GRCh38	Gain	GLB1L2 B3GAT1
nsv556611	Chr.11:134390175 - 134412392 on Build GRCh38	Loss	B3GAT1
esv3628169	Chr.11:134353064 - 134485281 on Build GRCh38	Gain	LOC283177 GLB1L2 B3GAT1
dgv1304n100	Chr.11:134322594 - 134754120 on Build GRCh38	Gain	LOC283177 GLB1L2 B3GAT1
esv2760555	Chr.11:134282136 - 134860776 on Build GRCh38	Gain+Loss	LOC283177 GLB1L2 GLB1L3 B3GAT1
dgv1307n100	Chr.11:134388248 - 134547865 on Build GRCh38	Gain	LOC283177 B3GAT1
esv3628170	Chr.11:134357170 - 134435562 on Build GRCh38	Gain	GLB1L2 B3GAT1
nsv521623	Chr.11:134307381 - 134756993 on Build GRCh38	Gain	LOC283177 GLB1L2 GLB1L3 B3GAT1
nsv1042300	Chr.11:134386590 - 134414596 on Build GRCh38	Loss	B3GAT1

More Information

Additional Information:

For this assay, SNP(s) [rs78975867] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

carbohydrate metabolic process
protein glycosylation
glycosaminoglycan metabolic process
chondroitin sulfate metabolic process
chondroitin sulfate proteoglycan biosynthetic process

Function(s)

galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
metal ion binding