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 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CFAP73 | NM_001144872.1 | 3 | 228 | NP_001138344.1 |
XM_011538327.2 | 3 | 924 | 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 | SDSL CFAP73 RASAL1 SDS IQCD DTX1 MIR6762 RITA1 TPCN1 SLC8B1 DDX54 PLBD2 MIR7106 |
dgv2884n54 | Chr.12:113115603 - 113166364 on Build GRCh38 | Loss | CFAP73 RASAL1 DDX54 MIR7106 |
esv3892265 | Chr.12:113099321 - 113527932 on Build GRCh38 | Gain | SDSL CFAP73 LHX5 RASAL1 SDS IQCD MIR6762 RITA1 TPCN1 SLC8B1 DDX54 PLBD2 MIR7106 LHX5-AS1 |
esv3630792 | Chr.12:112988703 - 113838810 on Build GRCh38 | Gain | SDSL CFAP73 LHX5 RASAL1 LINC01234 SDS IQCD OAS2 DTX1 MIR6762 RITA1 TPCN1 SLC8B1 DDX54 RBM19 PLBD2 MIR7106 LHX5-AS1 |
More Information
Additional Information:
For this assay, SNP(s) [rs116586136] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |