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

Chr.22:17592378 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02717184_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 Exon 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ATP6V1E1 NM_001039366.1 8 1098 NP_001034455.1
NM_001039367.1 8 1074 NP_001034456.1
NM_001696.3 9 1164 NP_001687.1
AI565049.1 1 220
AK294623.1
AK315941.1 8 1000
AW406069.1 2 391
BC004443.1 9 1066 AAH04443.1
X71491.1 9 1033 CAA50592.1
X76228.1 9 1052 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 CECR2 SLC25A18 BCL2L13 LOC101929372 ATP6V1E1
dgv4464n100 Chr.22:17570790 - 17611340 on Build GRCh38 Gain SLC25A18 LOC101929372 ATP6V1E1
nsv1065055 Chr.22:17559085 - 17632626 on Build GRCh38 Gain SLC25A18 BCL2L13 LOC101929372 ATP6V1E1
nsv526826 Chr.22:17411511 - 17836413 on Build GRCh38 Gain LINC00528 MIR3198-1 CECR2 MICAL3 SLC25A18 BCL2L13 BID LOC101929372 ATP6V1E1
esv3893428 Chr.22:17578563 - 18040448 on Build GRCh38 Loss LINC00528 MIR3198-1 MIR648 FLJ41941 MICAL3 SLC25A18 BCL2L13 BID LOC101929372 ATP6V1E1
dgv4465n100 Chr.22:17577691 - 17706530 on Build GRCh38 Gain SLC25A18 BCL2L13 LOC101929372 ATP6V1E1
esv3568229 Chr.22:17574659 - 17596669 on Build GRCh38 Loss SLC25A18 LOC101929372 ATP6V1E1
nsv3553 Chr.22:17553601 - 17608096 on Build GRCh38 Deletion CECR2 SLC25A18 LOC101929372 ATP6V1E1
nsv510802 Chr.22:17550100 - 17604891 on Build GRCh38 Deletion CECR2 SLC25A18 LOC101929372 ATP6V1E1
nsv428385 Chr.22:17491941 - 18886703 on Build GRCh38 Gain+Loss MIR648 USP18 FLJ41941 PI4KAP1 LOC100996401 SLC25A18 BID ATP6V1E1 LINC00528 FAM230A MIR3198-1 GGT3P CECR2 LOC100996432 MICAL3 TMEM191B RIMBP3 LOC642643 BCL2L13 LOC102725072 PEX26 LOC100996415 TUBA8 LOC729461 LOC101929372
dgv1278e212 Chr.22:17586154 - 17598370 on Build GRCh38 Loss SLC25A18 LOC101929372 ATP6V1E1

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