Hs06350419_cn

• Gene Symbol: SLC4A8
• Assay Reference Genome Location: Chr.12:51427509 on build GRCh38
• Cytoband: 12q13.13

Target Gene Details

• Entrez Gene ID: 9498
• Gene Name: solute carrier family 4 member 8
• Gene Aliases: NBC3, NDCBE
• Location: Chr.12:51391317-51515763 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC4A8	NM_001039960.2			NP_001035049.1
	NM_001258401.2			NP_001245330.1
	NM_001258402.1			NP_001245331.1
	NM_001258403.1			NP_001245332.1
	NM_001267615.1			NP_001254544.1
	NR_047672.1
	XM_006719700.1			XP_006719763.1
	XM_011539010.1			XP_011537312.1
	XM_011539011.1			XP_011537313.1
	XM_017020240.1			XP_016875729.1
	XM_017020241.1			XP_016875730.1
	XM_017020242.1			XP_016875731.1
	AB018282.1			BAA34459.1
	AF069512.1			AAC82380.1
	AF107099.1			AAD52981.1
	AI377345.1
	AK128321.1
	AK295315.1
	AK299545.1
	AL831915.1			CAD38576.2
	BC025994.1			AAH25994.1
	DA521806.1
	DB220099.1
	DQ063579.2			AAY79176.1
	DQ975204.1
	DQ996398.1
	DQ996537.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1045796	Chr.12:51400259 - 51450243 on Build GRCh38	Loss	SLC4A8
nsv832408	Chr.12:51302821 - 51477555 on Build GRCh38	Gain	BIN2 GALNT6 SLC4A8 CELA1

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

sodium ion transport
inorganic anion transport
bicarbonate transport
regulation of intracellular pH
anion transmembrane transport

Function(s)

inorganic anion exchanger activity
anion transmembrane transporter activity
anion:anion antiporter activity