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

Chr.15:33859648 on build GRCh38
Cytoband
15q14
Assay ID Hs00269418_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 Within Exon 103
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RYR3 NM_001036.4 100 14300 NP_001027.3
NM_001243996.2 99 14285 NP_001230925.1
XM_011521880.2 98 14455 XP_011520182.1
XM_017022468.1 99 14476 XP_016877957.1
XM_017022469.1 99 14473 XP_016877958.1
XM_017022470.1 99 16810 XP_016877959.1
XM_017022471.1 99 14473 XP_016877960.1
XM_017022472.1 99 14470 XP_016877961.1
XM_017022473.1 98 14458 XP_016877962.1
XM_017022474.1 99 14440 XP_016877963.1
XM_017022475.1 98 14389 XP_016877964.1
XM_017022476.1 98 14368 XP_016877965.1
AB001025.1 99 14290 BAA23795.1
AJ001515.1 100 14286 CAA04798.1
X74269.1 3 288 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 NOP10 EMC4 SCG5 NUTM1 CHRM5 MIR1233-1 TMCO5B LOC100131315 EMC7 LOC105370757 SLC12A6 FMN1 LOC101928134 LPCAT4 PGBD4 LOC101928042 AVEN ARHGAP11A GOLGA8A KATNBL1 MIR1233-2 RYR3 GREM1 GOLGA8B
esv33337 Chr.15:31689863 - 34575097 on Build GRCh38 Gain+Loss NOP10 NUTM1 EMC7 LOC105370757 FMN1 LOC101928134 LPCAT4 PGBD4 LOC101928042 AVEN ARHGAP11A MIR1233-2 GOLGA8O RYR3 GOLGA8B EMC4 SCG5 CHRM5 MIR1233-1 TMCO5B LOC101060588 LOC100131315 SLC12A6 WHAMMP1 LOC100996255 GOLGA8K ULK4P1 CHRNA7 GOLGA8A KATNBL1 GOLGA8N GREM1 LOC100653133 LOC105370940
esv3569431 Chr.15:33564570 - 35080307 on Build GRCh38 Gain NOP10 EMC4 NUTM1 LOC101928174 CHRM5 MIR1233-1 EMC7 GJD2 SLC12A6 ZNF770 LPCAT4 PGBD4 AVEN AQR GOLGA8A KATNBL1 MIR1233-2 ACTC1 RYR3 GOLGA8B
nsv568921 Chr.15:33754434 - 33955421 on Build GRCh38 Gain AVEN RYR3
nsv456789 Chr.15:33742220 - 34134417 on Build GRCh38 Gain PGBD4 CHRM5 EMC7 AVEN RYR3
nsv1044844 Chr.15:33773323 - 34004628 on Build GRCh38 Loss CHRM5 AVEN RYR3
dgv4456n54 Chr.15:32604149 - 34557061 on Build GRCh38 Gain NOP10 NUTM1 EMC7 LOC105370757 FMN1 LOC101928134 LPCAT4 PGBD4 LOC101928042 AVEN ARHGAP11A MIR1233-2 RYR3 GOLGA8B EMC4 SCG5 CHRM5 MIR1233-1 TMCO5B LOC100131315 SLC12A6 GOLGA8A KATNBL1 GOLGA8N GREM1

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More Information


Additional Information:

For this assay, SNP(s) [rs79305633] 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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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