Hs05283562_cn

• Gene Symbol: GALNT8
• Assay Reference Genome Location: Chr.12:4740078 on build GRCh38
• Cytoband: 12p13.32

Target Gene Details

• Entrez Gene ID: 26290
• Gene Name: polypeptide N-acetylgalactosaminyltransferase 8
• Gene Aliases: GALNAC-T8
• Location: Chr.12:4720586-4772726 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALNT8	NM_017417.1			NP_059113.1
	AJ271385.1			CAB89199.1
	BC140888.1
	BC140889.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv483060	Chr.12:3190835 - 5290834 on Build GRCh38	Loss	KCNA5 DYRK4 FGF23 NDUFA9 FGF6 CCND2-AS1 TIGAR PRMT8 LOC100128253 C12orf4 GALNT8 KCNA1 CCND2 LOC105369606 THCAT155 LOC101929584 AKAP3 CRACR2A KCNA6 TSPAN9 PARP11 LOC101929549 RAD51AP1
nsv1054218	Chr.12:4710410 - 4773501 on Build GRCh38	Loss	LOC101929549 GALNT8
nsv832318	Chr.12:4546633 - 4766671 on Build GRCh38	Gain	DYRK4 AKAP3 NDUFA9 LOC101929549 GALNT8 RAD51AP1
nsv1040098	Chr.12:3987637 - 5646161 on Build GRCh38	Gain	KCNA5 DYRK4 FGF23 NDUFA9 FGF6 CCND2-AS1 TIGAR C12orf4 GALNT8 KCNA1 CCND2 NTF3 LOC101929584 AKAP3 ANO2 KCNA6 LOC101929549 RAD51AP1

More Information

Additional Information:

For this assay, SNP(s) [rs78829933] 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)

O-glycan processing

Function(s)

polypeptide N-acetylgalactosaminyltransferase activity
carbohydrate binding
metal ion binding