Hs00567505_cn

• Gene Symbol: POMGNT2
• Assay Reference Genome Location: Chr.3:43079531 on build GRCh38
• Cytoband: 3p22.1

Target Gene Details

• Entrez Gene ID: 84892
• Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
• Gene Aliases: AGO61, C3orf39, GTDC2, MDDGA8
• Location: Chr.3:43079229-43106092 on Build GRCh38
• Assay Gene Location: Within Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMGNT2	NM_032806.5	2	2254	NP_116195.2
	XM_005265515.2	3	2385	XP_005265572.1
	XM_011534163.2	3	2373	XP_011532465.1
	XM_011534164.1	2	2955	XP_011532466.1
	XM_017007353.1	4	2464	XP_016862842.1
	AK027472.1	1	1514	BAB55137.1
	AK092147.1	2	2042	BAC03816.1
	AK124737.1	1	3222
	BC060861.1	2	2244	AAH60861.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954473	Chr.3:43076109 - 43082208 on Build GRCh38	Deletion	POMGNT2
nsv590149	Chr.3:42926105 - 43133715 on Build GRCh38	Gain	POMGNT2 FAM198A KRBOX1-AS1 KRBOX1

More Information

Additional Information:

For this assay, SNP(s) [rs75583919,rs78518984] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

neuron migration
protein O-linked glycosylation
protein O-linked mannosylation

Function(s)

protein binding
acetylglucosaminyltransferase activity
protein O-GlcNAc transferase activity