Hs02741273_cn

• Gene Symbol: PAH
• Assay Reference Genome Location: Chr.12:102838480 on build GRCh38
• Cytoband: 12q23.2

Target Gene Details

• Entrez Gene ID: 5053
• Gene Name: phenylalanine hydroxylase
• Gene Aliases: PH, PKU, PKU1
• Location: Chr.12:102838326-102917603 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAH	NM_000277.1	13	2526	NP_000268.1
	BC026251.1			AAH26251.1
	K03020.1	13	2276	AAA60082.1
	L47726.1	13	2526	AAA80910.1
	U49897.1	13	2526	AAC51772.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832500	Chr.12:102721814 - 102878889 on Build GRCh38	Loss	LINC00485 PAH
dgv512e212	Chr.12:102833817 - 102843465 on Build GRCh38	Loss	PAH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

L-phenylalanine catabolic process
tyrosine biosynthetic process
cellular amino acid biosynthetic process
protein hydroxylation
neurotransmitter biosynthetic process
catecholamine biosynthetic process
tetrahydrobiopterin metabolic process
oxidation-reduction process

Function(s)

phenylalanine 4-monooxygenase activity
iron ion binding
amino acid binding
protein homodimerization activity
cofactor binding