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 |
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dgv4464n100 | Chr.22:17570790 - 17611340 on Build GRCh38 | Gain |
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nsv1065055 | Chr.22:17559085 - 17632626 on Build GRCh38 | Gain |
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nsv526826 | Chr.22:17411511 - 17836413 on Build GRCh38 | Gain |
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esv3893428 | Chr.22:17578563 - 18040448 on Build GRCh38 | Loss |
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dgv4465n100 | Chr.22:17577691 - 17706530 on Build GRCh38 | Gain |
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esv3568229 | Chr.22:17574659 - 17596669 on Build GRCh38 | Loss |
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nsv3553 | Chr.22:17553601 - 17608096 on Build GRCh38 | Deletion |
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nsv510802 | Chr.22:17550100 - 17604891 on Build GRCh38 | Deletion |
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nsv428385 | Chr.22:17491941 - 18886703 on Build GRCh38 | Gain+Loss |
![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
dgv1278e212 | Chr.22:17586154 - 17598370 on Build GRCh38 | Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
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: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)