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

Chr.22:17593594 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04087306_cn
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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 8
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
AI565049.1
AK294623.1
AK312394.1
AK315941.1
AW406069.1
BC004443.1 AAH04443.1
BI546032.1
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
nsv9871 Chr.22:17545048 - 17683541 on Build GRCh38 Loss LOC101929372 CECR2 BCL2L13 SLC25A18 ATP6V1E1
dgv4464n100 Chr.22:17570790 - 17611340 on Build GRCh38 Gain LOC101929372 SLC25A18 ATP6V1E1
nsv1065055 Chr.22:17559085 - 17632626 on Build GRCh38 Gain LOC101929372 BCL2L13 SLC25A18 ATP6V1E1
nsv526826 Chr.22:17411511 - 17836413 on Build GRCh38 Gain LOC101929372 BID MIR3198-1 LINC00528 CECR2 MICAL3 BCL2L13 SLC25A18 ATP6V1E1
esv3893428 Chr.22:17578563 - 18040448 on Build GRCh38 Loss LOC101929372 BID MIR3198-1 LINC00528 MICAL3 BCL2L13 MIR648 FLJ41941 SLC25A18 ATP6V1E1
dgv4465n100 Chr.22:17577691 - 17706530 on Build GRCh38 Gain LOC101929372 BCL2L13 SLC25A18 ATP6V1E1
esv3568229 Chr.22:17574659 - 17596669 on Build GRCh38 Loss LOC101929372 SLC25A18 ATP6V1E1
nsv3553 Chr.22:17553601 - 17608096 on Build GRCh38 Deletion LOC101929372 CECR2 SLC25A18 ATP6V1E1
nsv510802 Chr.22:17550100 - 17604891 on Build GRCh38 Deletion LOC101929372 CECR2 SLC25A18 ATP6V1E1
nsv428385 Chr.22:17491941 - 18886703 on Build GRCh38 Gain+Loss LOC100996432 LOC100996415 MIR3198-1 MICAL3 GGT3P BCL2L13 PI4KAP1 RIMBP3 LOC642643 LOC729461 LOC101929372 BID LINC00528 CECR2 PEX26 SLC25A18 FAM230A TUBA8 LOC100996401 USP18 FLJ41941 ATP6V1E1 LOC102725072 MIR648 TMEM191B
dgv1278e212 Chr.22:17586154 - 17598370 on Build GRCh38 Loss LOC101929372 SLC25A18 ATP6V1E1

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More Information


Additional Information:

For this assay, SNP(s) [rs77996220] 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 Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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