Hs02425460_cn

• Gene Symbol: HEPH
• Assay Reference Genome Location: Chr.X:66195227 on build GRCh38
• Cytoband: Xq12

Target Gene Details

• Entrez Gene ID: 9843
• Gene Name: hephaestin
• Gene Aliases: CPL
• Location: Chr.X:66162526-66267389 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HEPH	NM_001130860.3			NP_001124332.1
	NM_001282141.1			NP_001269070.1
	NM_014799.3			NP_055614.1
	NM_138737.4			NP_620074.3
	XM_006724722.1			XP_006724785.1
	XM_011531073.2			XP_011529375.1
	XM_011531074.2			XP_011529376.1
	XM_011531075.2			XP_011529377.1
	XM_017029998.1			XP_016885487.1
	XM_017029999.1			XP_016885488.1
	XM_017030000.1			XP_016885489.1
	XM_017030001.1			XP_016885490.1
	XM_017030002.1			XP_016885491.1
	XM_017030003.1			XP_016885492.1
	AB014598.2
	AF148860.1			AAK08131.1
	AJ296162.2			CAC35365.2
	AK307761.1
	AK311043.1
	AY358990.1			AAQ89349.1
	BC011561.1			AAH11561.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3576919	Chr.X:65837678 - 66804698 on Build GRCh38	Gain	EDA2R HEPH MIR223 VSIG4

More Information

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

Panther Classification:

Molecular Function -

oxidase

Gene Ontology Categories:

Process(es)

copper ion transport
iron ion transport
cellular iron ion homeostasis
oxidation-reduction process

Function(s)

ferroxidase activity
copper ion binding
ferrous iron binding