Hs04774099_cn

• Gene Symbol: PLOD2
• Assay Reference Genome Location: Chr.3:146083225 on build GRCh38
• Cytoband: 3q24

Target Gene Details

• Entrez Gene ID: 5352
• Gene Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 2
• Gene Aliases: BRKS2, LH2, TLH
• Location: Chr.3:146069436-146161495 on Build GRCh38
• Assay Gene Location: Within Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLOD2	NM_000935.2			NP_000926.2
	NM_182943.2			NP_891988.1
	XM_005247535.3			XP_005247592.1
	XM_017006625.1			XP_016862114.1
	AB209879.1			BAD93116.1
	AK125700.1
	AK295084.1
	BC037169.1			AAH37169.1
	BX537521.1
	U84573.1			AAB58363.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv525829	Chr.3:145896530 - 146145992 on Build GRCh38	Loss	PLOD2
nsv4046	Chr.3:145975462 - 146162402 on Build GRCh38	Deletion	PLOD2

More Information

Additional Information:

For this assay, SNP(s) [rs114614524] 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 -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

response to hypoxia
cellular protein modification process
cellular response to hormone stimulus
oxidation-reduction process
mitophagy in response to mitochondrial depolarization

Function(s)

iron ion binding
procollagen-lysine 5-dioxygenase activity
L-ascorbic acid binding