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See other AVEN CNV Assays ›
Gene Symbol
AVEN
Assay Reference Genome
Location

Chr.15:33864183 on build GRCh38
Cytoband
15q14
Assay ID Hs02205527_cn
Size
Availability Made To Order
Catalog # 4400291
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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:

 Overlaps Intron 105 - Intron 106
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RYR3 NM_001036.4 NP_001027.3
NM_001243996.2 NP_001230925.1
XM_011521880.2 XP_011520182.1
XM_017022468.1 XP_016877957.1
XM_017022469.1 XP_016877958.1
XM_017022470.1 XP_016877959.1
XM_017022471.1 XP_016877960.1
XM_017022472.1 XP_016877961.1
XM_017022473.1 XP_016877962.1
XM_017022474.1 XP_016877963.1
XM_017022475.1 XP_016877964.1
XM_017022476.1 XP_016877965.1
AB001025.1 BAA23795.1
AJ001515.1 CAA04798.1
X74269.1 CAA52326.1

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 CHRM5 EMC7 AVEN RYR3
nsv1052620 Chr.15:32612402 - 34538731 on Build GRCh38 Gain TMCO5B MIR1233-2 PGBD4 GOLGA8A NOP10 CHRM5 LPCAT4 EMC4 GREM1 RYR3 SCG5 LOC105370757 MIR1233-1 LOC101928134 SLC12A6 ARHGAP11A EMC7 KATNBL1 AVEN NUTM1 LOC101928042 LOC100131315 FMN1 GOLGA8B
esv33337 Chr.15:31689863 - 34575097 on Build GRCh38 Gain+Loss ULK4P1 PGBD4 NOP10 CHRM5 LOC100653133 GOLGA8K GREM1 LOC105370757 LOC101928134 GOLGA8N ARHGAP11A EMC7 LOC101928042 LOC100131315 FMN1 GOLGA8O TMCO5B MIR1233-2 GOLGA8A LPCAT4 EMC4 RYR3 CHRNA7 SCG5 LOC100996255 MIR1233-1 LOC101060588 SLC12A6 KATNBL1 AVEN NUTM1 LOC105370940 WHAMMP1 GOLGA8B
nsv568921 Chr.15:33754434 - 33955421 on Build GRCh38 Gain AVEN RYR3
esv3569431 Chr.15:33564570 - 35080307 on Build GRCh38 Gain MIR1233-2 PGBD4 GOLGA8A NOP10 ZNF770 CHRM5 LPCAT4 EMC4 RYR3 GJD2 MIR1233-1 AQR SLC12A6 EMC7 LOC101928174 KATNBL1 AVEN NUTM1 ACTC1 GOLGA8B
nsv1044844 Chr.15:33773323 - 34004628 on Build GRCh38 Loss CHRM5 AVEN RYR3
nsv568920 Chr.15:33742220 - 34134417 on Build GRCh38 Gain PGBD4 CHRM5 EMC7 AVEN RYR3
dgv4456n54 Chr.15:32604149 - 34557061 on Build GRCh38 Gain PGBD4 NOP10 CHRM5 GREM1 LOC105370757 LOC101928134 GOLGA8N ARHGAP11A EMC7 LOC101928042 LOC100131315 FMN1 TMCO5B MIR1233-2 GOLGA8A LPCAT4 EMC4 RYR3 SCG5 MIR1233-1 SLC12A6 KATNBL1 AVEN NUTM1 GOLGA8B

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