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 | 15170 | NP_001027.3 |
NM_001243996.2 | 103 | 15155 | NP_001230925.1 | |
XM_011521880.2 | 102 | 15325 | XP_011520182.1 | |
XM_017022468.1 | 103 | 15346 | XP_016877957.1 | |
XM_017022469.1 | 103 | 15343 | XP_016877958.1 | |
XM_017022470.1 | 103 | 17680 | XP_016877959.1 | |
XM_017022471.1 | 103 | 15343 | XP_016877960.1 | |
XM_017022472.1 | 103 | 15340 | XP_016877961.1 | |
XM_017022473.1 | 102 | 15328 | XP_016877962.1 | |
XM_017022474.1 | 103 | 15310 | XP_016877963.1 | |
XM_017022475.1 | 102 | 15259 | XP_016877964.1 | |
XM_017022476.1 | 102 | 15238 | XP_016877965.1 | |
AB001025.1 | 103 | 15160 | BAA23795.1 | |
AJ001515.1 | 104 | 15156 | CAA04798.1 | |
BQ003017.1 | 1 | 421 |
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 | AVEN RYR3 CHRM5 PGBD4 EMC7 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | FMN1 LPCAT4 EMC4 RYR3 GOLGA8A LOC100131315 LOC101928134 NOP10 CHRM5 PGBD4 LOC105370757 NUTM1 LOC101928042 TMCO5B MIR1233-1 MIR1233-2 AVEN GOLGA8B GREM1 SCG5 SLC12A6 ARHGAP11A EMC7 KATNBL1 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC105370940 GOLGA8A LOC100131315 LOC101928134 NOP10 LOC105370757 MIR1233-2 ULK4P1 GOLGA8B GREM1 LOC101060588 KATNBL1 FMN1 LPCAT4 EMC4 GOLGA8K RYR3 CHRM5 PGBD4 NUTM1 LOC101928042 LOC100996255 TMCO5B MIR1233-1 CHRNA7 AVEN SCG5 LOC100653133 GOLGA8O GOLGA8N SLC12A6 ARHGAP11A WHAMMP1 EMC7 |
nsv568921 | Chr.15:33754434 - 33955421 on Build GRCh38 | Gain | AVEN RYR3 |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | LPCAT4 ACTC1 EMC4 AQR RYR3 GOLGA8A NOP10 CHRM5 PGBD4 NUTM1 MIR1233-1 LOC101928174 MIR1233-2 AVEN ZNF770 GOLGA8B GJD2 SLC12A6 EMC7 KATNBL1 |
nsv1044844 | Chr.15:33773323 - 34004628 on Build GRCh38 | Loss | AVEN RYR3 CHRM5 |
nsv568920 | Chr.15:33742220 - 34134417 on Build GRCh38 | Gain | AVEN RYR3 CHRM5 PGBD4 EMC7 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | GOLGA8A LOC100131315 LOC101928134 NOP10 LOC105370757 MIR1233-2 GOLGA8B GREM1 KATNBL1 FMN1 LPCAT4 EMC4 RYR3 CHRM5 PGBD4 NUTM1 LOC101928042 TMCO5B MIR1233-1 AVEN SCG5 GOLGA8N SLC12A6 ARHGAP11A EMC7 |
More Information
Additional Information:
For this assay, SNP(s) [rs201070973] 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 |