Hs07008221_cn

• Gene Symbol: CHPT1
• Assay Reference Genome Location: Chr.12:101719493 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: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHPT1	NM_020244.2			NP_064629.2
	XM_011538574.1			XP_011536876.1
	XM_011538575.1			XP_011536877.1
	AF047431.1			AAD44019.1
	AF111803.1			AAL39005.1
	AF195623.1			AAF87947.1
	AF195624.1			AAF87948.1
	AK075211.1
	AK093067.1
	AK226127.1
	AY280609.1			AAP34412.1
	AY280610.1			AAP34413.1
	AY294627.1			AAP37157.1
	BC020819.1			AAH20819.1
	BC050429.1			AAH50429.1

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	SYCP3 CHPT1 GNPTAB MYBPC1
dgv2838n54	Chr.12:101711851 - 101723811 on Build GRCh38	Loss	CHPT1
nsv859	Chr.12:101696419 - 101720084 on Build GRCh38	Deletion	CHPT1

More Information

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

Panther Classification:

Molecular Function -

transferase

Gene Ontology Categories:

Process(es)

regulation of cell growth
lipid metabolic process
phosphatidylcholine biosynthetic process
CDP-choline pathway
platelet activating factor biosynthetic process

Function(s)

diacylglycerol cholinephosphotransferase activity
diacylglycerol binding
metal ion binding