Hs01471322_cn

• Gene Symbol: CA4
• Assay Reference Genome Location: Chr.17:60155330 on build GRCh38
• Cytoband: 17q23.1

Target Gene Details

• Entrez Gene ID: 762
• Gene Name: carbonic anhydrase 4
• Gene Aliases: CAIV, Car4, RP17
• Location: Chr.17:60149941-60178118 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CA4	XM_005257639.2			XP_005257696.1
	XM_011525183.2			XP_011523485.1
	XM_017025012.1			XP_016880501.1
	AK289715.1
	AK298710.1
	BC057792.1			AAH57792.1
	BC069649.1			AAH69649.1
	BC074768.2			AAH74768.1
	CR541766.1			CAG46565.1
	DA113846.1
	M83670.1			AAA35630.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv527094	Chr.17:60128778 - 60163403 on Build GRCh38	Loss	LOC100996660 CA4
nsv519766	Chr.17:60148405 - 60163403 on Build GRCh38	Loss	CA4
nsv9579	Chr.17:60081156 - 60159528 on Build GRCh38	Gain+Loss	LOC105371849 WFDC21P LOC100996660 CA4 LOC653653
nsv833504	Chr.17:60071000 - 60277790 on Build GRCh38	Gain	LOC105371849 HEATR6 SCARNA20 WFDC21P LOC100996660 CA4 LOC653653 USP32
nsv528050	Chr.17:60149439 - 60163403 on Build GRCh38	Gain	CA4

More Information

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

Gene Ontology Categories:

Process(es)

one-carbon metabolic process
bicarbonate transport

Function(s)

carbonate dehydratase activity
protein binding
zinc ion binding