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

Chr.22:17597459 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04093861_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:

 Within Intron 7
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
AK294623.1
AK312394.1
AK315941.1
BC004443.1 AAH04443.1
BE735148.1
BI546032.1
BI597419.1
BQ888820.1
BT007128.1 AAP35792.1
CR456385.1 CAG30271.1
X71491.1 CAA50592.1
X76228.1 CAA53814.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv3647227 Chr.22:17596405 - 17597848 on Build GRCh38 Loss ATP6V1E1
nsv9871 Chr.22:17545048 - 17683541 on Build GRCh38 Loss BCL2L13 SLC25A18 ATP6V1E1 CECR2 LOC101929372
nsv526826 Chr.22:17411511 - 17836413 on Build GRCh38 Gain MICAL3 BCL2L13 SLC25A18 ATP6V1E1 CECR2 LINC00528 MIR3198-1 LOC101929372 BID
nsv1065055 Chr.22:17559085 - 17632626 on Build GRCh38 Gain BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
dgv4464n100 Chr.22:17570790 - 17611340 on Build GRCh38 Gain SLC25A18 ATP6V1E1 LOC101929372
esv2667900 Chr.22:17596386 - 17597831 on Build GRCh38 Deletion ATP6V1E1
esv3893428 Chr.22:17578563 - 18040448 on Build GRCh38 Loss MICAL3 BCL2L13 SLC25A18 ATP6V1E1 LINC00528 MIR3198-1 MIR648 FLJ41941 LOC101929372 BID
dgv4465n100 Chr.22:17577691 - 17706530 on Build GRCh38 Gain BCL2L13 SLC25A18 ATP6V1E1 LOC101929372
nsv428385 Chr.22:17491941 - 18886703 on Build GRCh38 Gain+Loss RIMBP3 PEX26 ATP6V1E1 CECR2 LOC102725072 TMEM191B GGT3P BCL2L13 LOC100996401 SLC25A18 LINC00528 LOC100996432 BID MICAL3 TUBA8 MIR3198-1 LOC100996415 USP18 LOC642643 FAM230A PI4KAP1 MIR648 LOC729461 FLJ41941 LOC101929372
nsv510802 Chr.22:17550100 - 17604891 on Build GRCh38 Deletion SLC25A18 ATP6V1E1 CECR2 LOC101929372
nsv3553 Chr.22:17553601 - 17608096 on Build GRCh38 Deletion SLC25A18 ATP6V1E1 CECR2 LOC101929372
dgv1278e212 Chr.22:17586154 - 17598370 on Build GRCh38 Loss SLC25A18 ATP6V1E1 LOC101929372

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