Hs00118319_cn

• Gene Symbol: SLC12A1
• Assay Reference Genome Location: Chr.15:48232842 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 6557
• Gene Name: solute carrier family 12 member 1
• Gene Aliases: BSC1, NKCC2
• Location: Chr.15:48206301-48304078 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC12A1	NM_000338.2			NP_000329.2
	NM_001184832.1			NP_001171761.1
	XM_005254606.1			XP_005254663.1
	AK295375.1
	AK298275.1
	AK298312.1
	BC040138.2			AAH40138.1
	BX647067.1
	BX647484.1
	EF559316.2
	U58130.1			AAB07364.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522923	Chr.15:48228393 - 48237743 on Build GRCh38	Loss	SLC12A1
esv2760030	Chr.15:48216841 - 48371581 on Build GRCh38	Loss	SLC12A1 DUT

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

transport
ion transport
potassium ion transport
sodium ion transport
diterpenoid metabolic process
protein insertion into membrane from inner side
ion transmembrane transport
chloride transmembrane transport

Function(s)

sodium:potassium:chloride symporter activity