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: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RPTOR | NM_001163034.1 | 1 | 342 | NP_001156506.1 |
NM_020761.2 | 1 | 342 | NP_065812.1 | |
AI821182.1 | 1 | 152 | ||
AK055912.1 | 1 | 188 | ||
AK295964.1 | 1 | 348 | ||
AK296321.1 | 1 | 336 | ||
BC064515.1 | 1 | 290 | 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 | NPTX1 ENDOV MIR4730 LOC100294362 RPTOR RNF213 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |