Hs01978439_cn

• Gene Symbol: AQP5
• Assay Reference Genome Location: Chr.12:49962278 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 362
• Gene Name: aquaporin 5
• Gene Aliases: AQP-5, PPKB
• Location: Chr.12:49961496-49965682 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AQP5	NM_001651.3	1	783	NP_001642.1
	XM_005268838.2	1	424	XP_005268895.1
	BC032946.1	1	333	AAH32946.1
	BQ083334.1
	CR541989.1	1	261	CAG46786.1
	CR542022.1	1	261	CAG46819.1

Target Gene Details

• Entrez Gene ID: 101927318
• Gene Name: uncharacterized LOC101927318
• Gene Aliases: -
• Location: Chr.12:49951512-49962924 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101927318	NR_110589.1
	NR_110590.1
	NR_110591.1
	BM839521.1
	BM931698.1
	DB200798.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv2618n54	Chr.12:49961546 - 49964685 on Build GRCh38	Loss	LOC101927318 AQP5
nsv832407	Chr.12:49849485 - 50018453 on Build GRCh38	Loss	AQP2 LOC101927292 LOC101927318 FAIM2 AQP6 LOC283332 RACGAP1 AQP5
nsv558837	Chr.12:49955982 - 50073986 on Build GRCh38	Loss	AQP2 LOC101927318 AQP6 RACGAP1 AQP5 ASIC1
nsv522972	Chr.12:49802611 - 50017048 on Build GRCh38	Gain	AQP2 LOC101927292 LOC101927318 FAIM2 BCDIN3D-AS1 BCDIN3D AQP6 NCKAP5L LOC283332 RACGAP1 AQP5
nsv558835	Chr.12:49881354 - 50039451 on Build GRCh38	Gain	AQP2 LOC101927292 LOC101927318 FAIM2 AQP6 LOC283332 RACGAP1 AQP5
nsv523899	Chr.12:49960654 - 49972517 on Build GRCh38	Loss	LOC101927318 AQP5

More Information

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

Panther Classification:

Molecular Function -

transporter

Gene Ontology Categories:

Process(es)

water transport
excretion
cellular water homeostasis
carbon dioxide transport
glycerol transport
pancreatic juice secretion
ion transmembrane transport
odontogenesis
saliva secretion
camera-type eye morphogenesis

Function(s)

protein binding
water channel activity
glycerol channel activity