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: | Overlaps Intron 1 - Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMG6 | NM_017575.4 | NP_060045.4 | ||
XM_005256569.3 | XP_005256626.1 | |||
XM_005256570.3 | XP_005256627.1 | |||
XM_011523769.2 | XP_011522071.1 | |||
XM_011523772.2 | XP_011522074.1 | |||
XM_011523773.2 | XP_011522075.1 | |||
XM_011523774.2 | XP_011522076.1 | |||
XM_017024398.1 | XP_016879887.1 | |||
AB018275.2 | ||||
AK024131.1 | 1 | 123 | BAB14835.1 | |
AU120859.1 | 1 | 123 | ||
AY145883.1 | AAN46114.1 |
Target Gene Details
Entrez Gene ID: | 63826 |
Gene Name: | serine racemase |
Gene Aliases: |
ILV1, ISO1 |
Location: |
Chr.17:2303371-2325267 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SRR | XM_006721565.3 | XP_006721628.1 | ||
AY743705.1 | AAW66460.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv574224 | Chr.17:2269769 - 2423186 on Build GRCh38 | Gain | SGSM2 LOC101927864 SMG6 TSR1 SNORD91A LOC284009 SNORD91B MNT METTL16 SRR |
nsv469765 | Chr.17:2213155 - 2400446 on Build GRCh38 | Loss | SGSM2 LOC101927864 SMG6 TSR1 SNORD91A LOC101927839 SNORD91B MNT SRR |
nsv833336 | Chr.17:2176922 - 2400456 on Build GRCh38 | Loss | SGSM2 LOC101927864 SMG6 TSR1 SNORD91A LOC101927839 SNORD91B MNT SRR |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |