Hs03949063_cn

• Gene Symbol: CA5A
• Assay Reference Genome Location: Chr.16:87924471 on build GRCh38
• Cytoband: 16q24.2

Target Gene Details

• Entrez Gene ID: 763
• Gene Name: carbonic anhydrase 5A
• Gene Aliases: CA5, CA5AD, CAV, CAVA, GS1-21A4.1
• Location: Chr.16:87888019-87936575 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CA5A	NM_001739.1			NP_001730.1
	XM_005256134.4			XP_005256191.1
	XM_011523309.2			XP_011521611.1
	XM_011523310.2			XP_011521612.1
	XM_017023646.1			XP_016879135.1
	BC137405.1
	BC137411.1
	L19297.1			AAA02890.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1059786	Chr.16:87811419 - 88019505 on Build GRCh38	Gain	SLC7A5 BANP MIR6775 LOC107987237 CA5A
nsv9471	Chr.16:87881137 - 87941142 on Build GRCh38	Gain	CA5A
esv2758668	Chr.16:87885744 - 88080126 on Build GRCh38	Loss	BANP CA5A
esv3892935	Chr.16:87808912 - 88010269 on Build GRCh38	Loss	SLC7A5 BANP MIR6775 LOC107987237 CA5A
esv24582	Chr.16:87855195 - 87926765 on Build GRCh38	Gain	SLC7A5 LOC107987237 CA5A
nsv1066924	Chr.16:87911850 - 87998507 on Build GRCh38	Loss	BANP CA5A
dgv36n68	Chr.16:87801736 - 87983550 on Build GRCh38	Loss	SLC7A5 BANP MIR6775 LOC107987237 CA5A
nsv1062946	Chr.16:87635801 - 88019505 on Build GRCh38	Gain	SLC7A5 BANP MIR6775 JPH3 LOC102724467 LOC100129215 LOC107987237 KLHDC4 LOC105371397 CA5A

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
zinc ion binding