Hs01654813_cn

• Gene Symbol: SLC4A5
• Assay Reference Genome Location: Chr.2:74232548 on build GRCh38
• Cytoband: 2p13.1

Target Gene Details

• Entrez Gene ID: 57835
• Gene Name: solute carrier family 4 member 5
• Gene Aliases: NBC4, NBCe2
• Location: Chr.2:74216242-74343407 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC4A5	NM_021196.3	19	2697	NP_067019.3
	NM_133478.2	24	3093	NP_597812.1
	AB209752.1			BAD92989.1
	AF243499.2	19	2695	AAK26741.1
	AF293337.2	23	3042	AAK97072.1
	AF293338.2	19	2695	AAK97073.1
	AF452248.1	21	2876	AAL48291.1
	AF453528.1			AAL50802.1
	BC109221.2	18	2438	AAI09222.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834261	Chr.2:74164582 - 74386593 on Build GRCh38	Loss	DCTN1-AS1 MOB1A DCTN1 MTHFD2 SLC4A5

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

epithelial cell development
renal system process
regulation of systemic arterial blood pressure
regulation of gene expression
inorganic anion transport
bicarbonate transport
cerebrospinal fluid secretion
sodium ion transmembrane transport
mitochondrion distribution
regulation of intracellular pH
retina development in camera-type eye
anion transmembrane transport

Function(s)

inorganic anion exchanger activity
anion transmembrane transporter activity
sodium:bicarbonate symporter activity
anion:anion antiporter activity