Hs02585352_cn

• Gene Symbol: KCNH3
• Assay Reference Genome Location: Chr.12:49549693 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 23416
• Gene Name: potassium voltage-gated channel subfamily H member 3
• Gene Aliases: BEC1, ELK2, Kv12.2
• Location: Chr.12:49538541-49558312 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNH3	NM_001314030.1			NP_001300959.1
	NM_012284.2			NP_036416.1
	XM_011538085.2			XP_011536387.1
	XM_011538086.2			XP_011536388.1
	XM_017019096.1			XP_016874585.1
	XM_017019097.1			XP_016874586.1
	AB022696.1			BAA83590.1
	AB033108.1
	BC150602.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832406	Chr.12:49466910 - 49668353 on Build GRCh38	Loss	PRPF40B FMNL3 MCRS1 LOC100422296 SPATS2 KCNH3 FAM186B

More Information

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

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

phosphorelay signal transduction system
potassium ion transport
signal transduction by protein phosphorylation
regulation of ion transmembrane transport
regulation of membrane potential
potassium ion transmembrane transport

Function(s)

phosphorelay sensor kinase activity
voltage-gated potassium channel activity
protein binding