Hs02575397_cn

• Gene Symbol: CHPT1
• Assay Reference Genome Location: Chr.12:101745611 on build GRCh38
• Cytoband: 12q23.2

Target Gene Details

• Entrez Gene ID: 56994
• Gene Name: choline phosphotransferase 1
• Gene Aliases: CPT, CPT1
• Location: Chr.12:101697639-101752038 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHPT1

Target Gene Details

• Entrez Gene ID: 79158
• Gene Name: N-acetylglucosamine-1-phosphate transferase alpha and beta subunits
• Gene Aliases: GNPTA, ICD
• Location: Chr.12:101745497-101830867 on Build GRCh38
• Assay Gene Location: Within Exon 23

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GNPTAB	NM_024312.4	21	5516	NP_077288.2
	XM_011538731.2	21	5512	XP_011537033.1
	XM_017019961.1	21	5413	XP_016875450.1
	XM_017019962.1	21	5618	XP_016875451.1
	AB033034.2	14	4407	BAA86522.2
	AK001821.1	4	1962	BAA91926.1
	AL359588.1	7	2300	CAB94874.1
	AM085438.1	21	5503	CAJ30014.1
	AY687932.1	21	5488	AAV98624.1
	BC042615.1	9	3027	AAH42615.1
	BU754017.1	1	129
	CR749871.1	7	2300	CAH18711.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832497	Chr.12:101667198 - 101861862 on Build GRCh38	Gain	GNPTAB CHPT1 SYCP3 MYBPC1

More Information

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

Gene Ontology Categories:

Process(es)

lysosome organization
protein secretion
N-glycan processing to lysosome
carbohydrate phosphorylation

Function(s)

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
calcium ion binding
protein binding