Hs00607510_cn

• Gene Symbol: POMGNT1
• Assay Reference Genome Location: Chr.1:46197877 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: Overlaps Intron 2 - Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
POMGNT1	NM_001243766.1			NP_001230695.1
	NM_017739.3			NP_060209.3
	XM_005271010.1			XP_005271067.1
	XM_006710755.1			XP_006710818.1
	XM_006710756.1			XP_006710819.1
	XM_017001690.1			XP_016857179.1
	AB057356.1			BAB71960.1
	AK000284.1			BAA91053.1
	AK056186.1
	AK225033.1
	AY358592.1			AAQ88955.1
	BC001471.2			AAH01471.1
	CR749700.1			CAH18478.2
	DA187331.1

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	LURAP1 TSPAN1 LRRC41 RAD54L NSUN4 POMGNT1 UQCRH
esv2761743	Chr.1:45874186 - 46561071 on Build GRCh38	Gain	MKNK1-AS1 LURAP1 LRRC41 NSUN4 UQCRH TSPAN1 MAST2 LINC01398 RAD54L KNCN LOC101929626 MKNK1 FAAH FAAHP1 POMGNT1 DMBX1 PIK3R3

More Information

• Set Membership: Intragenic, 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