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

Chr.22:17598203 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04088422_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 Intron 7 - Exon 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
CK005516.1
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
nsv9871 Chr.22:17545048 - 17683541 on Build GRCh38 Loss BCL2L13 LOC101929372 SLC25A18 ATP6V1E1 CECR2
nsv526826 Chr.22:17411511 - 17836413 on Build GRCh38 Gain BCL2L13 BID LOC101929372 SLC25A18 MIR3198-1 ATP6V1E1 CECR2 MICAL3 LINC00528
nsv1065055 Chr.22:17559085 - 17632626 on Build GRCh38 Gain BCL2L13 LOC101929372 SLC25A18 ATP6V1E1
dgv4464n100 Chr.22:17570790 - 17611340 on Build GRCh38 Gain LOC101929372 SLC25A18 ATP6V1E1
esv3893428 Chr.22:17578563 - 18040448 on Build GRCh38 Loss BCL2L13 BID LOC101929372 SLC25A18 MIR3198-1 ATP6V1E1 MIR648 FLJ41941 MICAL3 LINC00528
dgv4465n100 Chr.22:17577691 - 17706530 on Build GRCh38 Gain BCL2L13 LOC101929372 SLC25A18 ATP6V1E1
nsv428385 Chr.22:17491941 - 18886703 on Build GRCh38 Gain+Loss RIMBP3 LOC100996432 ATP6V1E1 PEX26 FLJ41941 LINC00528 BCL2L13 TMEM191B PI4KAP1 SLC25A18 MIR3198-1 MIR648 MICAL3 LOC102725072 LOC642643 TUBA8 LOC101929372 CECR2 GGT3P BID FAM230A LOC100996401 LOC100996415 LOC729461 USP18
nsv510802 Chr.22:17550100 - 17604891 on Build GRCh38 Deletion LOC101929372 SLC25A18 ATP6V1E1 CECR2
nsv3553 Chr.22:17553601 - 17608096 on Build GRCh38 Deletion LOC101929372 SLC25A18 ATP6V1E1 CECR2
dgv1278e212 Chr.22:17586154 - 17598370 on Build GRCh38 Loss LOC101929372 SLC25A18 ATP6V1E1

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