Hs03382601_cn

• Gene Symbol: PLCH2
• Assay Reference Genome Location: Chr.1:2417555 on build GRCh38
• Cytoband: 1p36.32

Target Gene Details

• Entrez Gene ID: 9651
• Gene Name: phospholipase C eta 2
• Gene Aliases: PLC-L4, PLC-eta2, PLCL4, PLCeta2
• Location: Chr.1:2412481-2505530 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLCH2	XM_011542455.2			XP_011540757.1
	XM_011542456.2			XP_011540758.1
	XM_017002870.1			XP_016858359.1
	XM_017002872.1			XP_016858361.1
	XM_017002873.1			XP_016858362.1
	XM_017002874.1			XP_016858363.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv951557	Chr.1:2266062 - 2564661 on Build GRCh38	Deletion	SKI HES5 PANK4 PEX10 MORN1 TNFRSF14 LOC115110 RER1 LOC100129534 PLCH2
nsv545072	Chr.1:2401592 - 2475448 on Build GRCh38	Loss	PEX10 RER1 PLCH2
nsv470684	Chr.1:2394570 - 2930923 on Build GRCh38	Loss	HES5 PANK4 LOC100996583 PEX10 TNFRSF14 LOC115110 RER1 MMEL1 FAM213B PLCH2 TTC34

More Information

Additional Information:

For this assay, SNP(s) [rs80045357] 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 -

phospholipase

Gene Ontology Categories:

Process(es)

biological_process
lipid catabolic process
intracellular signal transduction
inositol phosphate metabolic process
phosphatidylinositol metabolic process

Function(s)

molecular_function
phosphatidylinositol phospholipase C activity
signal transducer activity
calcium ion binding