Hs00447097_cn

• Gene Symbol: MGAT1
• Assay Reference Genome Location: Chr.5:180793083 on build GRCh38
• Cytoband: 5q35.3

Target Gene Details

• Entrez Gene ID: 4245
• Gene Name: mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
• Gene Aliases: GLCNAC-TI, GLCT1, GLYT1, GNT-1, GNT-I, GnTI, MGAT
• Location: Chr.5:180790541-180815652 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MGAT1	NM_001114617.1			NP_001108089.1
	NM_001114618.1			NP_001108090.1
	NM_001114619.1			NP_001108091.1
	NM_001114620.1			NP_001108092.1
	NM_002406.3			NP_002397.2
	XM_005265915.1			XP_005265972.1
	XM_005265916.1			XP_005265973.1
	XM_006714866.1			XP_006714929.1
	XM_011534559.1			XP_011532861.1
	XM_011534560.1			XP_011532862.1
	XM_011534561.1			XP_011532863.1
	XM_011534562.1			XP_011532864.1
	XM_011534563.2			XP_011532865.1
	XM_017009486.1			XP_016864975.1
	XM_017009487.1			XP_016864976.1
	AB209239.1			BAD92476.1
	AF289558.1			AAL55742.1
	AK057194.1
	AK075429.1			BAC11616.1
	AK090523.1
	AK092256.1
	AK094130.1
	AK290769.1
	BC003575.1			AAH03575.1
	CN409895.1
	DC383950.1
	M55621.1			AAA52563.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1161322	Chr.5:180717688 - 180914895 on Build GRCh38	Duplication	MGAT1 BTNL8 HEIH ZFP62 LINC00847 OR2Y1
dgv9n29	Chr.5:180758452 - 180976232 on Build GRCh38	Loss	MGAT1 BTNL8 HEIH ZFP62 LINC00847
esv2759399	Chr.5:180652970 - 180854476 on Build GRCh38	Gain	MGAT1 HEIH ZFP62 LINC00847 OR2Y1
esv3607794	Chr.5:180785700 - 180797650 on Build GRCh38	Gain	MGAT1
dgv5849n100	Chr.5:180653795 - 180801163 on Build GRCh38	Gain	MGAT1 OR2Y1
nsv600678	Chr.5:180749005 - 180799673 on Build GRCh38	Gain	MGAT1
nsv1026417	Chr.5:180294376 - 180864360 on Build GRCh38	Gain	GFPT2 MGAT1 SCGB3A1 HEIH ZFP62 FLT4 LINC00847 CNOT6 OR2Y1

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

in utero embryonic development
carbohydrate metabolic process
UDP-N-acetylglucosamine catabolic process
protein glycosylation

Function(s)

alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity
acetylglucosaminyltransferase activity
metal ion binding