Hs05032272_cn

• Gene Symbol: KCNQ3
• Assay Reference Genome Location: Chr.8:132121485 on build GRCh38
• Cytoband: 8q24.22

Target Gene Details

• Entrez Gene ID: 3786
• Gene Name: potassium voltage-gated channel subfamily Q member 3
• Gene Aliases: BFNC2, EBN2, KV7.3
• Location: Chr.8:132120858-132480757 on Build GRCh38
• Assay Gene Location: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KCNQ3	NM_001204824.1	15	10072	NP_001191753.1
	NM_004519.3	15	10621	NP_004510.1
	XM_005250914.3	12	9696	XP_005250971.1
	XM_006716555.3	13	9882	XP_006716618.1
	XM_011517026.2	15	13155	XP_011515328.1
	XM_017013400.1	15	20127	XP_016868889.1
	AK095711.1	1	2011
	BX538233.1	1	4390

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv612325	Chr.8:131918447 - 132338873 on Build GRCh38	Gain	HHLA1 KCNQ3 OC90 EFR3A
esv3618853	Chr.8:131375690 - 132136917 on Build GRCh38	Gain	HHLA1 KCNQ3 OC90 EFR3A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Process(es)

potassium ion transport
chemical synaptic transmission
regulation of ion transmembrane transport
membrane hyperpolarization
potassium ion transmembrane transport

Function(s)

voltage-gated potassium channel activity
delayed rectifier potassium channel activity
potassium channel activity
calmodulin binding