Hs02375154_cn

• Gene Symbol: SLC12A8
• Assay Reference Genome Location: Chr.3:125083321 on build GRCh38
• Cytoband: 3q21.2

Target Gene Details

• Entrez Gene ID: 84561
• Gene Name: solute carrier family 12 member 8
• Gene Aliases: CCC9
• Location: Chr.3:125082636-125212765 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC12A8	NM_001195483.1	13	2764	NP_001182412.1
	NM_024628.5	14	2825	NP_078904.3
	AA331231.1
	AF390442.1	13	2765	AAM73657.1
	AK026841.1	10	2161	BAB15571.1
	AK123001.1	15	2779
	BC020506.1	6	1727	AAH20506.1
	BC063528.1	6	1771	AAH63528.1
	BX538023.1	8	2148	CAD97969.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3982	Chr.3:125078149 - 125106568 on Build GRCh38	Insertion	SLC12A8
esv34126	Chr.3:125045570 - 125149965 on Build GRCh38	Loss	HEG1 SLC12A8
nsv10311	Chr.3:125073408 - 125703762 on Build GRCh38	Gain	OSBPL11 MIR5092 SNX4 SLC12A8 ZNF148
nsv1160974	Chr.3:124577493 - 125300995 on Build GRCh38	Duplication	MIR5092 HEG1 MIR544B SLC12A8 ITGB5 MUC13 ZNF148 KALRN UMPS
nsv1001677	Chr.3:124015843 - 125108694 on Build GRCh38	Loss	MIR6083 HEG1 MIR544B SLC12A8 ITGB5 MUC13 MIR5002 KALRN UMPS
nsv829712	Chr.3:125038838 - 125183948 on Build GRCh38	Loss	MIR5092 HEG1 SLC12A8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

potassium ion transport
transmembrane transport

Function(s)

symporter activity