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

Chr.15:33865213 on build GRCh38
Cytoband
15q14
Assay ID Hs02645098_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:

 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

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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

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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