Hs01517419_cn

• Gene Symbol: HPD
• Assay Reference Genome Location: Chr.12:121843758 on build GRCh38
• Cytoband: 12q24.31

Target Gene Details

• Entrez Gene ID: 3242
• Gene Name: 4-hydroxyphenylpyruvate dioxygenase
• Gene Aliases: 4-HPPD, 4HPPD, GLOD3, HPPDASE, PPD
• Location: Chr.12:121839527-121888611 on Build GRCh38
• Assay Gene Location: Overlaps Intron 15 - Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPD	NM_001171993.1			NP_001165464.1
	NM_002150.2			NP_002141.1
	AK057510.1
	AK290826.1
	BC024287.1			AAH24287.1
	X72389.1			CAA51082.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160065	Chr.12:121780583 - 121859371 on Build GRCh38	Deletion	RHOF TMEM120B LINC01089 HPD SETD1B
esv3892268	Chr.12:121747658 - 121845875 on Build GRCh38	Loss	RHOF TMEM120B LINC01089 HPD SETD1B
nsv912	Chr.12:121841785 - 121873999 on Build GRCh38	Insertion	HPD

More Information

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

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

L-phenylalanine catabolic process
tyrosine catabolic process
oxidation-reduction process

Function(s)

4-hydroxyphenylpyruvate dioxygenase activity
metal ion binding