Name: [Hs00577096_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	5346	NP_000044.2
	NM_001005918.2	17	4725	NP_001005918.1
	NM_001243182.1	22	5013	NP_001230111.1
	XM_005266423.2	21	5251	XP_005266480.1
	XM_005266424.4	21	5872	XP_005266481.1
	XM_005266427.2	20	5174	XP_005266484.1
	XM_005266428.1	19	5156	XP_005266485.1
	XM_005266430.4	22	5354	XP_005266487.1
	XM_005266431.3	21	5406	XP_005266488.1
	XM_005266432.2	18	4922	XP_005266489.1
	XM_006719837.3	21	5500	XP_006719900.1
	XM_006719838.1	15	3141	XP_006719901.1
	XM_006719839.1	14	2958	XP_006719902.1
	XM_011535117.2	21	6427	XP_011533419.1
	XM_011535118.1	20	5273	XP_011533420.1
	XM_011535119.1	20	5225	XP_011533421.1
	XM_011535122.2	20	4099	XP_011533424.1
	XM_017020627.1	21	5250	XP_016876116.1
	XM_017020628.1	20	4095	XP_016876117.1
	BX648261.1	14	4537
	L25591.1	16	4123	AAA79211.1
	U11700.1	21	5351	AAA92667.1

Release date: 2016-05-15, GRCh GRCh38

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