Assay Details
Target Gene Details
Entrez Gene ID: | 23293 |
Gene Name: | SMG6, nonsense mediated mRNA decay factor |
Gene Aliases: |
C17orf31, EST1A, SMG-6, hSMG5/7a |
Location: |
Chr.17:2059839-2303836 on Build GRCh38 |
Assay Gene Location: | Within Exon 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMG6 | NM_001256827.1 | 12 | 3075 | NP_001243756.1 |
NM_001256828.1 | 11 | 2832 | NP_001243757.1 | |
NM_001282326.1 | 7 | 3834 | NP_001269255.1 | |
NM_017575.4 | 19 | 5559 | NP_060045.4 | |
XM_005256569.3 | 19 | 5757 | XP_005256626.1 | |
XM_005256571.4 | 11 | 4142 | XP_005256628.1 | |
XM_011523769.2 | 20 | 5747 | XP_011522071.1 | |
XM_011523775.2 | 12 | 4151 | XP_011522077.1 | |
XM_017024399.1 | 19 | 4617 | XP_016879888.1 | |
AB018275.2 | 19 | 5596 | ||
AK024131.1 | BAB14835.1 | |||
AK074270.1 | 11 | 2821 | ||
AK093007.1 | 1 | 2010 | ||
AL080204.1 | 1 | 762 | ||
AL133597.1 | 7 | 3834 | CAB63733.1 | |
AY145883.1 | 19 | 5509 | AAN46114.1 | |
BC064916.1 | 12 | 3075 | AAH64916.1 | |
DB333407.1 | 1 | 410 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv574216 | Chr.17:2036249 - 2161537 on Build GRCh38 | Gain | LOC107984987 HIC1 MIR212 SMG6 MIR132 DPH1 OVCA2 |
nsv827857 | Chr.17:1954024 - 2060529 on Build GRCh38 | Gain | RTN4RL1 LOC105371485 HIC1 MIR212 SMG6 MIR132 DPH1 OVCA2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |