Hs03566848_cn

• Gene Symbol: MGAT1
• Assay Reference Genome Location: Chr.5:180811249 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: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MGAT1	XM_011534559.1			XP_011532861.1
	XM_011534562.1			XP_011532864.1
	XM_011534563.2			XP_011532865.1
	XM_017009486.1			XP_016864975.1
	AK057194.1

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	LINC00847 ZFP62 OR2Y1 BTNL8 MGAT1 HEIH
nsv428133	Chr.5:180805451 - 181359487 on Build GRCh38	Gain	OR2V1 BTNL9 SNORD96A OR2V2 MGAT1 LOC102577426 HEIH LOC100132062 TRIM7 OR4F3 BTNL3 TRIM41 TRIM52-AS1 RACK1 CTC-338M12.4 LINC00847 ZFP62 BTNL8 MIR4638 MIR8089 SNORD95 TRIM52
dgv9n29	Chr.5:180758452 - 180976232 on Build GRCh38	Loss	LINC00847 ZFP62 BTNL8 MGAT1 HEIH
esv2759399	Chr.5:180652970 - 180854476 on Build GRCh38	Gain	LINC00847 ZFP62 OR2Y1 MGAT1 HEIH
nsv1026417	Chr.5:180294376 - 180864360 on Build GRCh38	Gain	LINC00847 ZFP62 OR2Y1 CNOT6 GFPT2 MGAT1 HEIH FLT4 SCGB3A1

More Information

Additional Information:

For this assay, SNP(s) [rs75268547] 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 -

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