Hs03979475_cn

• Gene Symbol: SLC4A1
• Assay Reference Genome Location: Chr.17:44249205 on build GRCh38
• Cytoband: 17q21.31

Target Gene Details

• Entrez Gene ID: 6521
• Gene Name: solute carrier family 4 member 1 (Diego blood group)
• Gene Aliases: AE1, BND3, CD233, CHC, DI, EMPB3, EPB3, FR, RTA1A, SAO, SPH4, SW, WD, WD1, WR
• Location: Chr.17:44248390-44268161 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC4A1	NM_000342.3	20	4138	NP_000333.1
	XM_005257593.4	18	3906	XP_005257650.1
	XM_011525129.1	19	4075	XP_011523431.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv510713	Chr.17:44201179 - 44340387 on Build GRCh38	Deletion	RUNDC3A UBTF RUNDC3A-AS1 LOC101926967 SLC25A39 MIR6782 SLC4A1
nsv833455	Chr.17:44108553 - 44297300 on Build GRCh38	Loss	HDAC5 UBTF ATXN7L3 TMUB2 LOC101926967 LOC105371789 MIR6782 ASB16 SLC4A1 C17orf53 ASB16-AS1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

anion transport
chloride transport
cellular ion homeostasis
bicarbonate transport
regulation of intracellular pH
chloride transmembrane transport

Function(s)

actin binding
inorganic anion exchanger activity
protein binding
protein C-terminus binding
anion transmembrane transporter activity
bicarbonate transmembrane transporter activity
chloride transmembrane transporter activity
anion:anion antiporter activity
enzyme binding
ankyrin binding
protein homodimerization activity
protein anchor