Hs01714596_cn

• Gene Symbol: P3H4
• Assay Reference Genome Location: Chr.17:41806850 on build GRCh38
• Cytoband: 17q21.2

Target Gene Details

• Entrez Gene ID: 10609
• Gene Name: prolyl 3-hydroxylase family member 4 (non-enzymatic)
• Gene Aliases: LEPREL4, NO55, NOL55, SC65
• Location: Chr.17:41801952-41812617 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
P3H4	NM_006455.2			NP_006446.1
	XM_006721640.3			XP_006721703.1
	AJ250583.1			CAC16786.1
	AK056016.1	1	641
	AK056085.1
	AK222945.1			BAD96665.1
	AK301301.1
	BC001047.2			AAH01047.1
	BC007942.2			AAH07942.1
	BC011701.2			AAH11701.1
	U47621.1			AAC51792.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1060502	Chr.17:41767306 - 41821751 on Build GRCh38	Gain	P3H4 FKBP10 JUP
dgv3174n100	Chr.17:41778258 - 41843183 on Build GRCh38	Gain	KLHL10 P3H4 NT5C3B FKBP10 JUP
nsv833447	Chr.17:41794279 - 41955275 on Build GRCh38	Loss	KLHL11 KLHL10 TTC25 P3H4 ACLY NT5C3B FKBP10

More Information

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

Panther Classification:

Molecular Function -

protein modifying enzyme

Gene Ontology Categories:

Process(es)

synaptonemal complex assembly