Assay Details
Target Gene Details
Entrez Gene ID: | 9296 |
Gene Name: | ATPase H+ transporting V1 subunit F |
Gene Aliases: |
ATP6S14, VATF, Vma7 |
Location: |
Chr.7:128862803-128865849 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V1F | NM_001198909.1 | NP_001185838.1 | ||
NM_004231.3 | NP_004222.2 | |||
AK312214.1 | ||||
BC104230.1 | AAI04231.1 | |||
BC104231.1 | AAI04232.1 | |||
BC107854.1 | AAI07855.1 | |||
BG724326.1 | ||||
BU683155.1 | ||||
BU956696.1 | ||||
CR456896.1 | CAG33177.1 | |||
D49400.1 | BAA08392.1 | |||
DB499437.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv464717 | Chr.7:128832927 - 128876891 on Build GRCh38 | Loss | KCP ATP6V1F FLNC LOC100130705 |
esv2670312 | Chr.7:128499519 - 128999613 on Build GRCh38 | Deletion | METTL2B IRF5 CCDC136 CALU ATP6V1F LOC100130705 KCP OPN1SW TNPO3 FLNC LINC01000 FAM71F1 FAM71F2 |
nsv608409 | Chr.7:128843173 - 128911686 on Build GRCh38 | Loss | KCP ATP6V1F FLNC LOC100130705 |
esv2735137 | Chr.7:128499440 - 128999664 on Build GRCh38 | Deletion | METTL2B IRF5 CCDC136 CALU ATP6V1F LOC100130705 KCP OPN1SW TNPO3 FLNC LINC01000 FAM71F1 FAM71F2 |
dgv11612n54 | Chr.7:128818595 - 128928906 on Build GRCh38 | Loss | KCP CCDC136 ATP6V1F FLNC LOC100130705 |
dgv11611n54 | Chr.7:128794846 - 128881377 on Build GRCh38 | Loss | KCP CCDC136 ATP6V1F FLNC LOC100130705 |
nsv831125 | Chr.7:128772651 - 128955697 on Build GRCh38 | Loss | KCP IRF5 CCDC136 CALU ATP6V1F OPN1SW TNPO3 FLNC LOC100130705 |
esv22837 | Chr.7:128774435 - 128953151 on Build GRCh38 | Gain | KCP IRF5 CCDC136 ATP6V1F OPN1SW FLNC LOC100130705 |
nsv517923 | Chr.7:128805212 - 128876891 on Build GRCh38 | Gain | KCP CCDC136 ATP6V1F FLNC LOC100130705 |
More Information
Additional Information:
For this assay, SNP(s) [rs76180727] 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 |