Hs04460495_cn

• Gene Symbol: SLC12A3
• Assay Reference Genome Location: Chr.16:56881220 on build GRCh38
• Cytoband: 16q13

Target Gene Details

• Entrez Gene ID: 6559
• Gene Name: solute carrier family 12 member 3
• Gene Aliases: NCC, NCCT, TSC
• Location: Chr.16:56865207-56915850 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC12A3	NM_000339.2			NP_000330.2
	NM_001126107.1			NP_001119579.1
	NM_001126108.1			NP_001119580.1
	XM_005256119.2			XP_005256176.1
	AK223133.1
	AK315298.1
	U44128.1			AAC50355.1
	X91220.1			CAA62613.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33108	Chr.16:56857096 - 56883621 on Build GRCh38	Loss	MIR138-2 SLC12A3
nsv526264	Chr.16:56878991 - 56892881 on Build GRCh38	Loss	SLC12A3
nsv1059098	Chr.16:56733938 - 57028336 on Build GRCh38	Gain	HERPUD1 NUP93 MIR6863 CETP MIR138-2 NLRC5 SLC12A3

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

transport
ion transport
sodium ion transport
sodium ion transmembrane transport
chloride transmembrane transport

Function(s)

transporter activity
protein binding
sodium:chloride symporter activity
enzyme binding