Assay Details
Target Gene Details
Entrez Gene ID: | 286207 |
Gene Name: | cilia and flagella associated protein 157 |
Gene Aliases: |
C9orf117 |
Location: |
Chr.9:127706261-127716002 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP157 | XM_011518559.2 | XP_011516861.2 | ||
AK126437.1 | ||||
AL833241.1 | 2 | 1730 | ||
BC133027.1 |
Target Gene Details
Entrez Gene ID: | 138428 |
Gene Name: | peptidyl-tRNA hydrolase 1 homolog |
Gene Aliases: |
C9orf115, PTH1 |
Location: |
Chr.9:127695024-127716714 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTRH1 | NM_001002913.1 | 2 | 285 | NP_001002913.1 |
XM_006716955.3 | 2 | 1342 | XP_006717018.1 | |
XM_017014276.1 | 2 | 1342 | XP_016869765.1 | |
XM_017014277.1 | 2 | 1342 | XP_016869766.1 | |
XM_017014278.1 | 2 | 1342 | XP_016869767.1 | |
AK090922.1 | 3 | 1724 | ||
BC047012.1 | 2 | 285 | AAH47012.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv466571 | Chr.9:127707924 - 127774438 on Build GRCh38 | Loss | TOR2A CFAP157 SH2D3C TTC16 PTRH1 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |