Name: [Hs07150148_cn] [ATP1A3]
Creator: Thermo Fisher Scientific
Keywords: [ATP1A3] Assay, [ATPase Na+/K+ transporting subunit alpha 3] Assay

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:	478
Gene Name:	ATPase Na+/K+ transporting subunit alpha 3
Gene Aliases:	AHC2, ATP1A1, CAPOS, DYT12, RDP
Location:	Chr.19:41966582-41994276 on Build GRCh38
Assay Gene Location:	Within Intron 9

Gene Symbol	Transcript Accession	Protein ID
ATP1A3	NM_001256213.1	NP_001243142.1
	NM_001256214.1	NP_001243143.1
	NM_152296.4	NP_689509.1
	AK122693.1
	AK223569.1	BAD97289.1
	AK293784.1
	AK295078.1
	AK295833.1
	AK296557.1
	AK307921.1
	AK316069.1
	BC009282.2	AAH09282.1
	BC009394.2	AAH09394.1
	BC015566.2	AAH15566.1
	BX478337.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv520239	Chr.19:41853387 - 42426852 on Build GRCh38	Loss	RABAC1 CD79A ZNF526 CNFN LOC390937 ERF ARHGEF1 PAFAH1B3 POU2F2 TMEM145 RPS19 LOC100505585 DEDD2 MIR8077 MIR4323 GRIK5 MIR6797 CIC GSK3A LIPE-AS1 ZNF574 LIPE PRR19 ATP1A3 MEGF8 LOC100505622 LOC101930071
nsv953580	Chr.19:41888230 - 41997948 on Build GRCh38	Deletion	RABAC1 LOC390937 ARHGEF1 ATP1A3 LOC100505585
dgv3550n100	Chr.19:41916194 - 42001892 on Build GRCh38	Gain	RABAC1 GRIK5 LOC390937 ATP1A3 LOC100505585
esv2678217	Chr.19:41983099 - 41984305 on Build GRCh38	Deletion	ATP1A3
nsv522854	Chr.19:41613927 - 42426852 on Build GRCh38	Gain	RABAC1 CD79A ZNF526 CNFN LOC390937 ERF ARHGEF1 PAFAH1B3 DMRTC2 POU2F2 TMEM145 RPS19 LOC100505585 DEDD2 MIR8077 MIR4323 GRIK5 MIR6797 CIC GSK3A CEACAM7 LIPE-AS1 ZNF574 LYPD4 LIPE PRR19 CEACAM5 CEACAM6 ATP1A3 CEACAM4 MEGF8 CEACAM3 LOC100505622 LOC101930071