Name: [Hs02683630_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 Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP1A3	NM_001256213.1	21	2937	NP_001243142.1
	NM_001256214.1	21	3107	NP_001243143.1
	NM_152296.4	21	3068	NP_689509.1
	AK054736.1	9	1218
	AK094628.1	13	1772
	AK122693.1	15	2189
	AK223569.1	21	3019	BAD97289.1
	AK293784.1	20	2719
	AK295078.1	21	3061
	AK295833.1	21	2922
	AK296557.1	21	2937
	AK316069.1	21	3054
	AL832884.1	5	607
	BC009282.2	21	2984	AAH09282.1
	BC009394.2	21	2984	AAH09394.1
	BC015566.2	21	2984	AAH15566.1

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