Name: [Hs00739114_cn] [ATP7B]
Creator: Thermo Fisher Scientific
Keywords: [ATP7B] Assay, [ATPase copper transporting beta] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	540
Gene Name:	ATPase copper transporting beta
Gene Aliases:	PWD, WC1, WD, WND
Location:	Chr.13:51932669-52012130 on Build GRCh38
Assay Gene Location:	Within Exon 30

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP7B	NM_000053.3	21	5187	NP_000044.2
	NM_001005918.2	17	4566	NP_001005918.1
	NM_001243182.1	22	4854	NP_001230111.1
	XM_005266423.2	21	5092	XP_005266480.1
	XM_005266424.4	21	5713	XP_005266481.1
	XM_005266427.2	20	5015	XP_005266484.1
	XM_005266428.1	19	4997	XP_005266485.1
	XM_005266430.4	22	5195	XP_005266487.1
	XM_005266431.3	21	5247	XP_005266488.1
	XM_005266432.2	18	4763	XP_005266489.1
	XM_006719837.3	21	5341	XP_006719900.1
	XM_006719838.1	15	2982	XP_006719901.1
	XM_006719839.1	14	2799	XP_006719902.1
	XM_011535117.2	21	6268	XP_011533419.1
	XM_011535118.1	20	5114	XP_011533420.1
	XM_011535119.1	20	5066	XP_011533421.1
	XM_011535122.2	20	3940	XP_011533424.1
	XM_017020627.1	21	5091	XP_016876116.1
	XM_017020628.1	20	3936	XP_016876117.1
	BX648261.1	14	4378
	L25591.1	16	3964	AAA79211.1
	U11700.1	21	5192	AAA92667.1

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3892343	Chr.13:51418581 - 52060832 on Build GRCh38	Gain	ALG11 ATP7B WDFY2 LOC107984562 CCDC70 LINC00282 UTP14C INTS6-AS1 INTS6 MIR4703 DHRS12 CTAGE3P
nsv561649	Chr.13:51917057 - 51996592 on Build GRCh38	Loss	ATP7B
dgv1652n100	Chr.13:51747428 - 52069788 on Build GRCh38	Loss	ALG11 ATP7B WDFY2 LOC107984562 CCDC70 LINC00282 UTP14C DHRS12 CTAGE3P NEK5