Hs05132812_cn

• Gene Symbol: PHYH
• Assay Reference Genome Location: Chr.10:13291263 on build GRCh38
• Cytoband: 10p13

Target Gene Details

• Entrez Gene ID: 5264
• Gene Name: phytanoyl-CoA 2-hydroxylase
• Gene Aliases: LN1, LNAP1, PAHX, PHYH1, RD
• Location: Chr.10:13277796-13300130 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHYH	NM_001037537.1			NP_001032626.1
	NM_001323080.1			NP_001310009.1
	NM_001323082.1			NP_001310011.1
	NM_001323083.1			NP_001310012.1
	NM_001323084.1			NP_001310013.1
	NM_006214.3			NP_006205.1
	AF023462.1			AAB81834.1
	AF112977.1			AAD20602.1
	BC029512.1			AAH29512.1
	CR542055.1			CAG46852.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831788	Chr.10:13291241 - 13469810 on Build GRCh38	Loss	PHYH SEPHS1 BEND7

More Information

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

Panther Classification:

Molecular Function -

hydroxylase

Gene Ontology Categories:

Process(es)

fatty acid alpha-oxidation
isoprenoid metabolic process
methyl-branched fatty acid metabolic process

Function(s)

protein binding
L-ascorbic acid binding
metal ion binding
cofactor binding
phytanoyl-CoA dioxygenase activity