Hs01563435_cn

• Gene Symbol: PLOD1
• Assay Reference Genome Location: Chr.1:11964252 on build GRCh38
• Cytoband: 1p36.22

Target Gene Details

• Entrez Gene ID: 5351
• Gene Name: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
• Gene Aliases: EDS6, LH, LH1, LLH, PLOD
• Location: Chr.1:11934667-11975542 on Build GRCh38
• Assay Gene Location: Overlaps Exon 13 - Intron 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLOD1	NM_000302.3			NP_000293.2
	NM_001316320.1			NP_001303249.1
	AK294688.1
	AK295254.1
	AK299150.1
	AK312243.1
	AK316285.1
	BC016657.2			AAH16657.1
	M98252.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv955252	Chr.1:11963044 - 11966243 on Build GRCh38	Deletion	PLOD1
nsv545427	Chr.1:11960355 - 11966298 on Build GRCh38	Loss	PLOD1

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

response to hypoxia
cellular protein modification process
epidermis development
peptidyl-lysine hydroxylation
cellular response to hormone stimulus
hydroxylysine biosynthetic process
oxidation-reduction process

Function(s)

ferrous iron binding
procollagen-lysine 5-dioxygenase activity
L-ascorbic acid binding
peptide binding
protein homodimerization activity