Assay Details
Target Gene Details
Entrez Gene ID: | 245972 |
Gene Name: | ATPase H+ transporting V0 subunit d2 |
Gene Aliases: |
ATP6D2, VMA6 |
Location: |
Chr.8:86098910-86154225 on Build GRCh38 |
Assay Gene Location: | Within Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ATP6V0D2 | NM_152565.1 | NP_689778.1 | ||
AK096027.1 | BAC04679.1 | |||
AY079172.1 | AAL87000.1 | |||
BC065207.1 | AAH65207.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2761443 | Chr.8:86097139 - 86158585 on Build GRCh38 | Gain | ATP6V0D2 |
nsv611673 | Chr.8:86094481 - 86124091 on Build GRCh38 | Loss | ATP6V0D2 |
nsv1028959 | Chr.8:85823138 - 86130154 on Build GRCh38 | Gain | PSKH2 ATP6V0D2 |
dgv7262n100 | Chr.8:86099478 - 86165139 on Build GRCh38 | Gain | ATP6V0D2 |
nsv428204 | Chr.8:85493249 - 86299979 on Build GRCh38 | Gain | REXO1L2P SLC7A13 LOC107986879 LOC101929601 REXO1L1P PSKH2 ATP6V0D2 LOC100288562 LOC101929627 |
esv3891432 | Chr.8:85988884 - 86136762 on Build GRCh38 | Gain | PSKH2 ATP6V0D2 |
More Information
Additional Information:
For this assay, SNP(s) [rs142473196] 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 |