Hs04412303_cn

• Gene Symbol: CHPT1
• Assay Reference Genome Location: Chr.12:101711890 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHPT1	NM_020244.2			NP_064629.2
	XM_011538574.1			XP_011536876.1
	AF047431.1			AAD44019.1
	AF195623.1			AAF87947.1
	AF195624.1			AAF87948.1
	AK075211.1
	AK093067.1
	AK226127.1
	BC020819.1			AAH20819.1
	BC050429.1			AAH50429.1
	CD300296.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2664879	Chr.12:101708628 - 101713308 on Build GRCh38	Deletion	CHPT1
dgv2835n54	Chr.12:101711211 - 101713222 on Build GRCh38	Loss	CHPT1
nsv560007	Chr.12:101707848 - 101713222 on Build GRCh38	Loss	CHPT1
dgv308n67	Chr.12:101708728 - 101713802 on Build GRCh38	Loss	CHPT1
dgv87e215	Chr.12:101708223 - 101713722 on Build GRCh38	Deletion	CHPT1
nsv832497	Chr.12:101667198 - 101861862 on Build GRCh38	Gain	CHPT1 SYCP3 MYBPC1 GNPTAB
dgv2836n54	Chr.12:101711350 - 101716557 on Build GRCh38	Loss	CHPT1
dgv2837n54	Chr.12:101711851 - 101713222 on Build GRCh38	Loss	CHPT1
nsv514642	Chr.12:101709491 - 101711979 on Build GRCh38	Loss	CHPT1
esv21962	Chr.12:101708956 - 101713345 on Build GRCh38	Loss	CHPT1
nsv435634	Chr.12:101707835 - 101713695 on Build GRCh38	Deletion	CHPT1
esv3630579	Chr.12:101708632 - 101713337 on Build GRCh38	Loss	CHPT1
esv2746280	Chr.12:101708621 - 101713291 on Build GRCh38	Deletion	CHPT1
esv9053	Chr.12:101708428 - 101713516 on Build GRCh38	Loss	CHPT1
nsv560006	Chr.12:101703234 - 101714567 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