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See other ATP6V1E1 CNV Assays ›
Gene Symbol
ATP6V1E1
Assay Reference Genome
Location

Chr.22:17628828 on build GRCh38
Cytoband
22q11.21
Assay ID Hs01756921_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 529

Gene Name:

 ATPase H+ transporting V1 subunit E1

Gene Aliases:

 ATP6E, ATP6E2, ATP6V1E, P31, Vma4

Location:

 Chr.22:17592136-17628822 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ATP6V1E1 NM_001039366.1 NP_001034455.1
NM_001039367.1 NP_001034456.1
NM_001696.3 NP_001687.1
CK005516.1

Target Gene Details

Entrez Gene ID:

 23786

Gene Name:

 BCL2 like 13

Gene Aliases:

 BCL-RAMBO, Bcl2-L-13, MIL1

Location:

 Chr.22:17628855-17730855 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BCL2L13 XM_011546119.1 XP_011544421.1
XM_011546120.1 XP_011544422.1
XM_011546121.2 XP_011544423.1
XM_017028725.1 XP_016884214.1
XM_017028726.1 XP_016884215.1
XM_017028728.1 XP_016884217.1
XM_017028731.1 XP_016884220.1
XM_017028734.1 XP_016884223.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv9871 Chr.22:17545048 - 17683541 on Build GRCh38 Loss ATP6V1E1 LOC101929372 CECR2 BCL2L13 SLC25A18
nsv526826 Chr.22:17411511 - 17836413 on Build GRCh38 Gain ATP6V1E1 LOC101929372 MIR3198-1 BID CECR2 MICAL3 LINC00528 BCL2L13 SLC25A18
nsv1065055 Chr.22:17559085 - 17632626 on Build GRCh38 Gain ATP6V1E1 LOC101929372 BCL2L13 SLC25A18
esv3893428 Chr.22:17578563 - 18040448 on Build GRCh38 Loss FLJ41941 ATP6V1E1 LOC101929372 MIR3198-1 BID MICAL3 LINC00528 BCL2L13 SLC25A18 MIR648
esv3893429 Chr.22:17600825 - 17678777 on Build GRCh38 Gain ATP6V1E1 BCL2L13
dgv4465n100 Chr.22:17577691 - 17706530 on Build GRCh38 Gain ATP6V1E1 LOC101929372 BCL2L13 SLC25A18
nsv428385 Chr.22:17491941 - 18886703 on Build GRCh38 Gain+Loss PI4KAP1 LOC102725072 USP18 MIR648 FLJ41941 LOC100996415 LOC642643 LOC101929372 MIR3198-1 GGT3P MICAL3 BCL2L13 SLC25A18 PEX26 LOC100996401 LOC729461 CECR2 LINC00528 TUBA8 FAM230A ATP6V1E1 RIMBP3 BID TMEM191B LOC100996432

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