Hs04536071_cn

• Gene Symbol: POMGNT1
• Assay Reference Genome Location: Chr.1:46200689 on build GRCh38
• Cytoband: 1p34.1

Target Gene Details

• Entrez Gene ID: 55624
• Gene Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
• Gene Aliases: GNTI.2, GnT I.2, LGMD2O, MEB, MGAT1.2, gnT-I.2
• Location: Chr.1:46188681-46220305 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMGNT1	NM_001243766.1			NP_001230695.1
	AK056186.1
	CR749700.1			CAH18478.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470711	Chr.1:46194623 - 46344858 on Build GRCh38	Gain	POMGNT1 TSPAN1 NSUN4 LURAP1 LRRC41 RAD54L UQCRH
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	FAAH KNCN POMGNT1 PIK3R3 MKNK1-AS1 LRRC41 RAD54L DMBX1 LOC101929626 TSPAN1 NSUN4 MKNK1 LURAP1 FAAHP1 MAST2 LINC01398 UQCRH

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

protein O-linked glycosylation

Function(s)

protein binding
beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity