Hs03919913_cn

• Gene Symbol: ATP2C2
• Assay Reference Genome Location: Chr.16:84389300 on build GRCh38
• Cytoband: 16q24.1

Target Gene Details

• Entrez Gene ID: 9914
• Gene Name: ATPase secretory pathway Ca2+ transporting 2
• Gene Aliases: SPCA2
• Location: Chr.16:84368523-84465777 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP2C2	NM_001286527.2			NP_001273456.2
	NM_014861.3			NP_055676.3
	AK300526.1
	AK316128.1
	AY791884.1			AAV54193.1
	BX648333.1			CAI46049.1
	CR749829.1			CAH18686.1
	DB218862.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv524545	Chr.16:84389209 - 84397270 on Build GRCh38	Loss	ATP2C2
nsv1064677	Chr.16:84384525 - 84462657 on Build GRCh38	Loss	LOC105371374 ATP2C2
esv3892928	Chr.16:84339110 - 84524557 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
dgv169n21	Chr.16:84346305 - 84480735 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
nsv573425	Chr.16:84298994 - 84575953 on Build GRCh38	Loss	COTL1 TLDC1 LOC105371374 WFDC1 ATP2C2
nsv573427	Chr.16:84367244 - 84435705 on Build GRCh38	Loss	ATP2C2
nsv471107	Chr.16:84378250 - 84455427 on Build GRCh38	Gain	ATP2C2
dgv3057n100	Chr.16:84378422 - 84500091 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
nsv483044	Chr.16:84166395 - 87066394 on Build GRCh38	Gain	CRISPLD2 LOC101928557 FOXF1 ZDHHC7 FLJ30679 IRF8 C16orf74 KLHL36 ATP2C2 LOC400548 ADAD2 FAM92B FENDRR LOC101928614 LOC440390 LOC146513 MIR1910 GSE1 MIR6774 LOC105371374 LOC102724344 COX4I1 LINC01081 EMC8 FOXL1 USP10 LINC00917 MTHFSD DNAAF1 LINC00311 LOC105376777 WFDC1 KIAA0513 COTL1 TLDC1 LOC101928474 LINC01082 FOXC2 GINS2 TAF1C KCNG4 MIR5093 FOXC2-AS1
dgv547e214	Chr.16:84253360 - 84417275 on Build GRCh38	Loss	LOC105376777 WFDC1 ATP2C2
nsv1059640	Chr.16:84338790 - 84543759 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2
dgv5262n54	Chr.16:84381903 - 84583279 on Build GRCh38	Loss	COTL1 TLDC1 LOC105371374 ATP2C2
nsv457600	Chr.16:84387654 - 84501190 on Build GRCh38	Loss	TLDC1 LOC105371374 ATP2C2

More Information

Additional Information:

For this assay, SNP(s) [rs114090851] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

cellular calcium ion homeostasis
ion transmembrane transport
calcium ion transmembrane transport
manganese ion transmembrane transport

Function(s)

calcium-transporting ATPase activity
protein binding
ATP binding
manganese-transporting ATPase activity
metal ion binding