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: | Within Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AVEN | NM_020371.2 | 6 | 1203 | NP_065104.1 |
XM_011521818.2 | 7 | 1386 | XP_011520120.1 | |
XM_011521819.2 | 6 | 1429 | XP_011520121.1 | |
XM_011521820.1 | 6 | 904 | XP_011520122.1 | |
AF283508.1 | 6 | 1199 | AAF91470.1 | |
AK025888.1 | 1 | 166 | ||
BC010488.1 | 6 | 1197 | AAH10488.1 | |
BC063533.1 | 6 | 1187 | AAH63533.1 |
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 | EMC7 PGBD4 RYR3 AVEN CHRM5 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | LOC100131315 EMC7 LOC101928134 PGBD4 RYR3 GOLGA8A AVEN NOP10 GREM1 LOC105370757 EMC4 CHRM5 MIR1233-1 LOC101928042 NUTM1 MIR1233-2 LPCAT4 GOLGA8B KATNBL1 SCG5 FMN1 SLC12A6 ARHGAP11A TMCO5B |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC100131315 ULK4P1 LOC101928134 GOLGA8K NOP10 GREM1 CHRM5 GOLGA8N LPCAT4 GOLGA8B CHRNA7 LOC105370940 SCG5 FMN1 SLC12A6 LOC101060588 EMC7 PGBD4 RYR3 GOLGA8A AVEN LOC105370757 EMC4 MIR1233-1 LOC101928042 NUTM1 LOC100653133 MIR1233-2 KATNBL1 LOC100996255 WHAMMP1 GOLGA8O ARHGAP11A TMCO5B |
nsv568921 | Chr.15:33754434 - 33955421 on Build GRCh38 | Gain | RYR3 AVEN |
esv3569431 | Chr.15:33564570 - 35080307 on Build GRCh38 | Gain | ACTC1 AQR EMC7 PGBD4 RYR3 LOC101928174 GOLGA8A AVEN NOP10 EMC4 CHRM5 MIR1233-1 NUTM1 MIR1233-2 LPCAT4 ZNF770 GOLGA8B KATNBL1 GJD2 SLC12A6 |
nsv1044844 | Chr.15:33773323 - 34004628 on Build GRCh38 | Loss | RYR3 AVEN CHRM5 |
nsv568920 | Chr.15:33742220 - 34134417 on Build GRCh38 | Gain | EMC7 PGBD4 RYR3 AVEN CHRM5 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | LOC100131315 LOC101928134 NOP10 GREM1 CHRM5 GOLGA8N LPCAT4 GOLGA8B SCG5 FMN1 SLC12A6 EMC7 PGBD4 RYR3 GOLGA8A AVEN LOC105370757 EMC4 MIR1233-1 LOC101928042 NUTM1 MIR1233-2 KATNBL1 ARHGAP11A TMCO5B |
More Information
Additional Information:
For this assay, SNP(s) [rs74008366] 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 DGV Variation |