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See other ATP6V1C2 CNV Assays ›
Gene Symbol
ATP6V1C2
Assay Reference Genome
Location

Chr.2:10784159 on build GRCh38
Cytoband
2p25.1
Assay ID Hs02569367_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 245973

Gene Name:

 ATPase H+ transporting V1 subunit C2

Gene Aliases:

 ATP6C2, VMA5

Location:

 Chr.2:10720974-10785110 on Build GRCh38

Assay Gene Location:

 Within Exon 17
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ATP6V1C2 NM_001039362.1 14 2289 NP_001034451.1
NM_144583.3 13 2151 NP_653184.2
AK127836.1
BC012142.1 12 2062 AAH12142.1

Target Gene Details

Entrez Gene ID:

 10130

Gene Name:

 protein disulfide isomerase family A member 6

Gene Aliases:

 ERP5, P5, TXNDC7

Location:

 Chr.2:10783391-10837977 on Build GRCh38

Assay Gene Location:

 Within Exon 18
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PDIA6 NM_001282704.1 15 1916 NP_001269633.1
NM_001282705.1 14 1938 NP_001269634.1
NM_001282706.1 14 1768 NP_001269635.1
NM_001282707.1 14 1743 NP_001269636.1
NM_005742.3 13 1565 NP_005733.1
XM_011510308.1 12 1409 XP_011508610.1
AK125449.1 1 2963
AK127433.1 15 1916 BAC86977.1
AK131234.1 14 1934
AK225496.1 12 1311
AK289428.1 13 1441
AK294347.1 14 1658
AK297547.1 14 1728
BC001312.1 13 1521 AAH01312.1
U79278.1 12 1367 AAB50217.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1000731 Chr.2:10618531 - 10803756 on Build GRCh38 Gain ATP6V1C2 RN7SL832P PDIA6 NOL10
nsv580968 Chr.2:10783142 - 10793123 on Build GRCh38 Loss ATP6V1C2 PDIA6

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More Information


Additional Information:

For this assay, SNP(s) [rs202243910] 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 -

ATP synthase chaperone

Gene Ontology Categories:

Function(s) Process(es)


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