Hs00547712_cn

• Gene Symbol: ATP7B
• Assay Reference Genome Location: Chr.13:51933571 on build GRCh38
• Cytoband: 13q14.3

Target Gene 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	5740	NP_000044.2
	NM_001005918.2	17	5119	NP_001005918.1
	NM_001243182.1	22	5407	NP_001230111.1
	XM_005266423.2	21	5645	XP_005266480.1
	XM_005266424.4	21	6266	XP_005266481.1
	XM_005266427.2	20	5568	XP_005266484.1
	XM_005266428.1	19	5550	XP_005266485.1
	XM_005266430.4	22	5748	XP_005266487.1
	XM_005266431.3	21	5800	XP_005266488.1
	XM_005266432.2	18	5316	XP_005266489.1
	XM_006719837.3	21	5894	XP_006719900.1
	XM_006719838.1	15	3535	XP_006719901.1
	XM_006719839.1	14	3352	XP_006719902.1
	XM_011535117.2	21	6821	XP_011533419.1
	XM_011535118.1	20	5667	XP_011533420.1
	XM_011535119.1	20	5619	XP_011533421.1
	XM_011535122.2	20	4493	XP_011533424.1
	XM_017020627.1	21	5644	XP_016876116.1
	XM_017020628.1	20	4489	XP_016876117.1
	BX648261.1	14	4931
	L25591.1	16	4517	AAA79211.1
	U11700.1	21	5745	AAA92667.1

Target Copy Number Variation Details

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

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

More Information

Additional Information:

For this assay, SNP(s) [rs79490882] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

copper ion transport
cellular copper ion homeostasis
cellular zinc ion homeostasis
lactation
circadian rhythm
response to zinc ion
copper ion import
intracellular copper ion transport
ion transmembrane transport
response to copper ion
sequestering of calcium ion
response to cAMP
copper ion export

Function(s)

copper-exporting ATPase activity
copper ion binding
protein binding
ATP binding
zinc ion binding
copper-transporting ATPase activity