Hs04534493_cn

• Gene Symbol: CEPT1
• Assay Reference Genome Location: Chr.1:111179315 on build GRCh38
• Cytoband: 1p13.3

Target Gene Details

• Entrez Gene ID: 10390
• Gene Name: choline/ethanolamine phosphotransferase 1
• Gene Aliases: -
• Location: Chr.1:111139436-111185102 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CEPT1	NM_001007794.1			NP_001007795.1
	NM_006090.3			NP_006081.1
	XM_006710285.3			XP_006710348.1
	XM_011540496.1			XP_011538798.1
	AF068302.1			AAD25170.1
	AF138862.1			AAF61194.1
	AK023381.1
	AL832104.1	1	1102
	BC032610.2			AAH32610.1
	BC049196.1			AAH49196.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv10639	Chr.1:111126227 - 111244431 on Build GRCh38	Gain	CHI3L2 DRAM2 CEPT1 DENND2D

More Information

Additional Information:

For this assay, SNP(s) [rs79531861] 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 -

transferase

Gene Ontology Categories:

Process(es)

lipid metabolic process
phosphatidylethanolamine biosynthetic process
phosphatidylcholine biosynthetic process
CDP-choline pathway

Function(s)

diacylglycerol cholinephosphotransferase activity
ethanolaminephosphotransferase activity
metal ion binding