Hs00320980_cn

• Gene Symbol: ANO7
• Assay Reference Genome Location: Chr.2:241188517 on build GRCh38
• Cytoband: 2q37.3

Target Gene Details

• Entrez Gene ID: 50636
• Gene Name: anoctamin 7
• Gene Aliases: D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G
• Location: Chr.2:241188509-241239602 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANO7	NM_001001666.3			NP_001001666.1
	NM_001001891.3			NP_001001891.2
	XM_011511263.2			XP_011509565.1
	XM_011511267.2			XP_011509569.1
	XM_017004229.1			XP_016859718.1
	AY617079.1			AAT40139.1
	AY617080.1			AAT40140.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv3241	Chr.2:241158269 - 241190667 on Build GRCh38	Insertion	PPP1R7 ANO7
nsv527790	Chr.2:241184874 - 241223944 on Build GRCh38	Loss	ANO7
nsv508900	Chr.2:241177974 - 241244786 on Build GRCh38	Insertion	PPP1R7 ANO7 HDLBP

More Information

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

Gene Ontology Categories:

Process(es)

chloride transport
lipid transport
ion transmembrane transport
calcium activated phosphatidylserine scrambling
calcium activated phosphatidylcholine scrambling
calcium activated galactosylceramide scrambling
chloride transmembrane transport

Function(s)

intracellular calcium activated chloride channel activity
phospholipid scramblase activity
protein dimerization activity