Assay Details
Target Gene Details
Entrez Gene ID: | 387885 |
Gene Name: | cilia and flagella associated protein 73 |
Gene Aliases: |
CCDC42B, MIA2 |
Location: |
Chr.12:113149162-113159276 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP73 | NM_001144872.1 | NP_001138344.1 | ||
XM_011538327.2 | 7 | 1669 | XP_011536629.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519540 | Chr.12:113042705 - 113459599 on Build GRCh38 | Gain+Loss | SDS MIR7106 SDSL MIR6762 CFAP73 SLC8B1 DTX1 IQCD DDX54 PLBD2 TPCN1 RITA1 RASAL1 |
dgv2884n54 | Chr.12:113115603 - 113166364 on Build GRCh38 | Loss | CFAP73 DDX54 RASAL1 MIR7106 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | SDS MIR7106 SDSL LHX5-AS1 MIR6762 CFAP73 SLC8B1 IQCD DDX54 PLBD2 TPCN1 RITA1 RASAL1 LHX5 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | SDS RBM19 MIR7106 OAS2 LINC01234 SDSL LHX5-AS1 MIR6762 CFAP73 SLC8B1 DTX1 IQCD DDX54 PLBD2 TPCN1 RITA1 RASAL1 LHX5 |