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 Intron 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 | |||
AB082951.1 | BAC06490.1 | |||
AK055912.1 | ||||
AK295964.1 | ||||
AK296321.1 | ||||
AY090663.1 | AAM09075.1 | |||
BC064515.1 | AAH64515.1 | |||
BC136652.1 | ||||
BC136654.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv24254 | Chr.17:80396528 - 80656857 on Build GRCh38 | Gain+Loss | RNF213 ENDOV MIR4730 RPTOR LOC100294362 NPTX1 |
nsv523005 | Chr.17:80552727 - 80584611 on Build GRCh38 | Loss | RPTOR |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |