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See other RYR3 CNV Assays ›
Gene Symbol
RYR3
Assay Reference Genome
Location

Chr.15:33313917 on build GRCh38
Cytoband
15q13.3
Assay ID Hs05371771_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

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 Intron 1
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_017022471.1 XP_016877960.1
XM_017022472.1 XP_016877961.1
XM_017022473.1 XP_016877962.1
XM_017022475.1 XP_016877964.1
XM_017022476.1 XP_016877965.1
XM_017022477.1 XP_016877966.1
AB001025.1 BAA23795.1
AJ001515.1 CAA04798.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1052620 Chr.15:32612402 - 34538731 on Build GRCh38 Gain FMN1 SCG5 RYR3 GOLGA8B GOLGA8A KATNBL1 LOC105370757 PGBD4 CHRM5 LOC100131315 LPCAT4 EMC4 AVEN LOC101928134 MIR1233-2 NOP10 SLC12A6 TMCO5B NUTM1 ARHGAP11A LOC101928042 GREM1 MIR1233-1 EMC7
nsv832963 Chr.15:33222597 - 33420241 on Build GRCh38 Gain RYR3 LOC101928134 TMCO5B
esv33337 Chr.15:31689863 - 34575097 on Build GRCh38 Gain+Loss FMN1 SCG5 LOC100653133 GOLGA8O GOLGA8B LOC105370757 LOC101928134 MIR1233-2 TMCO5B NUTM1 ARHGAP11A WHAMMP1 LOC101928042 GREM1 GOLGA8N CHRNA7 EMC7 RYR3 GOLGA8A LOC105370940 KATNBL1 PGBD4 CHRM5 ULK4P1 LOC100131315 LPCAT4 EMC4 GOLGA8K AVEN LOC101060588 NOP10 SLC12A6 LOC100996255 MIR1233-1
dgv4456n54 Chr.15:32604149 - 34557061 on Build GRCh38 Gain FMN1 SCG5 GOLGA8B LOC105370757 LOC101928134 MIR1233-2 TMCO5B NUTM1 ARHGAP11A LOC101928042 GREM1 GOLGA8N EMC7 RYR3 GOLGA8A KATNBL1 PGBD4 CHRM5 LOC100131315 LPCAT4 EMC4 AVEN NOP10 SLC12A6 MIR1233-1

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More Information


Additional Information:

For this assay, SNP(s) [rs77258312] 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 Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

ligand-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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