Assay Details
Target Gene Details
Entrez Gene ID: | 57521 |
Gene Name: | regulatory associated protein of MTOR complex 1 |
Gene Aliases: |
KOG1, Mip1 |
Location: |
Chr.17:80544825-80966373 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPTOR | NM_001163034.1 | NP_001156506.1 | ||
NM_020761.2 | NP_065812.1 | |||
AI821182.1 | ||||
AK295964.1 | ||||
AK296321.1 | ||||
BC064515.1 | AAH64515.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1056989 | Chr.17:80534340 - 80557095 on Build GRCh38 | Gain | RPTOR |
esv24254 | Chr.17:80396528 - 80656857 on Build GRCh38 | Gain+Loss | MIR4730 RPTOR NPTX1 RNF213 LOC100294362 ENDOV |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |