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 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP157 | NM_001012502.2 | NP_001012520.2 | ||
XM_006717064.3 | XP_006717127.2 | |||
XM_011518559.2 | XP_011516861.2 | |||
XM_017014630.1 | XP_016870119.1 | |||
AK094948.1 | 6 | 1233 | ||
AK126437.1 | 3 | 1006 | ||
AL833241.1 | 1 | 165 | ||
BC133027.1 | 1 | 612 | ||
BC141809.1 |
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 Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PTRH1 | XM_017014277.1 | XP_016869766.1 |
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 | SH2D3C TOR2A PTRH1 TTC16 CFAP157 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |