Hs01948636_cn

• Gene Symbol: SLC24A5
• Assay Reference Genome Location: Chr.15:48134305 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 283652
• Gene Name: solute carrier family 24 member 5
• Gene Aliases: JSX, NCKX5, OCA6, SHEP4
• Location: Chr.15:48120972-48142392 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC24A5	NM_205850.2			NP_995322.1
	XM_017022079.1			XP_016877568.1
	XM_017022080.1			XP_016877569.1
	AF348468.1			AAQ15116.1
	BC113628.1
	BC113630.1
	BC143950.1
	DQ665306.1
	DQ665307.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832999	Chr.15:47960097 - 48160208 on Build GRCh38	Gain	MYEF2 SLC24A5
nsv569338	Chr.15:48104611 - 48160602 on Build GRCh38	Loss	MYEF2 SLC24A5

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

ion transport
potassium ion transport
cellular calcium ion homeostasis
ion transmembrane transport
sodium ion transmembrane transport
negative regulation of melanin biosynthetic process
response to stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
calcium ion binding
calcium, potassium:sodium antiporter activity
symporter activity
potassium ion binding
sodium ion binding