Assay Details
Target Gene Details
Entrez Gene ID: | 57099 |
Gene Name: | apoptosis and caspase activation inhibitor |
Gene Aliases: |
PDCD12 |
Location: |
Chr.15:33858602-34074877 on Build GRCh38 |
Assay Gene Location: |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AVEN |
Target Gene Details
Entrez Gene ID: | 6263 |
Gene Name: | ryanodine receptor 3 |
Gene Aliases: |
RYR-3 |
Location: |
Chr.15:33310773-33866103 on Build GRCh38 |
Assay Gene Location: | Within Exon 107 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RYR3 | NM_001036.4 | 104 | 14684 | NP_001027.3 |
NM_001243996.2 | 103 | 14669 | NP_001230925.1 | |
XM_011521880.2 | 102 | 14839 | XP_011520182.1 | |
XM_017022468.1 | 103 | 14860 | XP_016877957.1 | |
XM_017022469.1 | 103 | 14857 | XP_016877958.1 | |
XM_017022470.1 | 103 | 17194 | XP_016877959.1 | |
XM_017022471.1 | 103 | 14857 | XP_016877960.1 | |
XM_017022472.1 | 103 | 14854 | XP_016877961.1 | |
XM_017022473.1 | 102 | 14842 | XP_016877962.1 | |
XM_017022474.1 | 103 | 14824 | XP_016877963.1 | |
XM_017022475.1 | 102 | 14773 | XP_016877964.1 | |
XM_017022476.1 | 102 | 14752 | XP_016877965.1 | |
AB001025.1 | 103 | 14674 | BAA23795.1 | |
AJ001515.1 | 104 | 14670 | CAA04798.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv471235 | Chr.15:33743328 - 34129750 on Build GRCh38 | Gain | PGBD4 AVEN EMC7 RYR3 CHRM5 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | KATNBL1 GOLGA8B AVEN TMCO5B SLC12A6 LOC105370757 EMC7 GREM1 SCG5 LOC100131315 ARHGAP11A NUTM1 NOP10 RYR3 LOC101928134 MIR1233-2 LOC101928042 MIR1233-1 LPCAT4 GOLGA8A PGBD4 EMC4 FMN1 CHRM5 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | ULK4P1 GOLGA8B TMCO5B LOC100653133 GOLGA8N SLC12A6 EMC7 GREM1 SCG5 ARHGAP11A NOP10 LOC101928134 LOC101060588 MIR1233-1 PGBD4 EMC4 GOLGA8O WHAMMP1 FMN1 CHRM5 KATNBL1 LOC105370940 AVEN LOC105370757 GOLGA8K LOC100131315 NUTM1 RYR3 MIR1233-2 LOC101928042 LPCAT4 GOLGA8A CHRNA7 LOC100996255 |
nsv568921 | Chr.15:33754434 - 33955421 on Build GRCh38 | Gain | AVEN RYR3 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | KATNBL1 GJD2 GOLGA8B AVEN SLC12A6 EMC7 ZNF770 NUTM1 NOP10 RYR3 MIR1233-2 MIR1233-1 LPCAT4 GOLGA8A PGBD4 EMC4 LOC101928174 AQR ACTC1 CHRM5 |
nsv1044844 | Chr.15:33773323 - 34004628 on Build GRCh38 | Loss | AVEN RYR3 CHRM5 |
nsv568920 | Chr.15:33742220 - 34134417 on Build GRCh38 | Gain | PGBD4 AVEN EMC7 RYR3 CHRM5 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | GOLGA8B TMCO5B GOLGA8N SLC12A6 EMC7 GREM1 SCG5 ARHGAP11A NOP10 LOC101928134 MIR1233-1 PGBD4 EMC4 FMN1 CHRM5 KATNBL1 AVEN LOC105370757 LOC100131315 NUTM1 RYR3 MIR1233-2 LOC101928042 LPCAT4 GOLGA8A |
More Information
Additional Information:
For this assay, SNP(s) [rs117474814,rs117743413] 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 Exonic Non-exonic DGV Variation |