Haplotype with homozygous deficiency JBH17, CDC45-related
Phenotype Details
- Phene ID
- 5145
- Name
- Haplotype with homozygous deficiency JBH17, CDC45-related
- Phene Name
- N/A
- OMIA ID
- 2626
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1528 | Haplotype with homozygous deficiency JBH17, CDC45-related | 388266066 | 1 | 17 | g.74743512G>T | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
Sasaki et al. (2021): "A novel variant AC_000174.1:g.74743512G>T of CDC45 in JBH_17 was located in a splicing donor site at a distance of 5 bp, affecting pre-mRNA splicing."