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