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 2 |
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_017022474.1 | XP_016877963.1 | |||
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 |
---|---|---|---|
nsv832964 | Chr.15:33316570 - 33491817 on Build GRCh38 | Loss | RYR3 |
nsv568919 | Chr.15:33346134 - 33444482 on Build GRCh38 | Loss | RYR3 |
nsv1052620 | Chr.15:32612402 - 34538731 on Build GRCh38 | Gain | GOLGA8B LOC105370757 SCG5 LOC101928042 EMC7 FMN1 KATNBL1 EMC4 MIR1233-1 NOP10 MIR1233-2 PGBD4 GOLGA8A RYR3 ARHGAP11A NUTM1 GREM1 SLC12A6 LPCAT4 LOC100131315 LOC101928134 TMCO5B CHRM5 AVEN |
nsv832963 | Chr.15:33222597 - 33420241 on Build GRCh38 | Gain | LOC101928134 TMCO5B RYR3 |
esv33337 | Chr.15:31689863 - 34575097 on Build GRCh38 | Gain+Loss | LOC105370757 FMN1 PGBD4 NUTM1 LOC100996255 GREM1 SLC12A6 TMCO5B AVEN GOLGA8B SCG5 LOC101928042 ULK4P1 EMC7 KATNBL1 GOLGA8O GOLGA8N EMC4 MIR1233-1 NOP10 MIR1233-2 GOLGA8A RYR3 ARHGAP11A LPCAT4 CHRNA7 LOC100131315 GOLGA8K LOC100653133 LOC101928134 WHAMMP1 LOC105370940 LOC101060588 CHRM5 |
dgv4456n54 | Chr.15:32604149 - 34557061 on Build GRCh38 | Gain | LOC105370757 FMN1 PGBD4 NUTM1 GREM1 SLC12A6 TMCO5B AVEN GOLGA8B SCG5 LOC101928042 EMC7 KATNBL1 GOLGA8N EMC4 MIR1233-1 NOP10 MIR1233-2 GOLGA8A RYR3 ARHGAP11A LPCAT4 LOC100131315 LOC101928134 CHRM5 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |