Hs01199253_cn

• Gene Symbol: P4HTM
• Assay Reference Genome Location: Chr.3:49006190 on build GRCh38
• Cytoband: 3p21.31

Target Gene Details

• Entrez Gene ID: 54681
• Gene Name: prolyl 4-hydroxylase, transmembrane
• Gene Aliases: EGLN4, HIFPH4, P4H-TM, PH-4, PH4, PHD4
• Location: Chr.3:48989908-49007149 on Build GRCh38
• Assay Gene Location: Overlaps Exon 8 - Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P4HTM	NM_177938.2			NP_808807.2
	NM_177939.2			NP_808808.1
	AI079878.1
	AK000269.1			BAA91045.1
	AL713728.1			CAD28518.2
	AY198406.1			AAO43431.1
	BC000580.1			AAH00580.1
	BC011710.2			AAH11710.3

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv954488	Chr.3:49002068 - 49019667 on Build GRCh38	Deletion	DALRD3 WDR6 P4HTM

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

regulation of erythrocyte differentiation
oxidation-reduction process

Function(s)

iron ion binding
calcium ion binding
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
L-ascorbic acid binding