Haplotype with homozygous deficiency BH2, TUBD1-related
Phenotype Details
- Phene ID
- 3740
- Name
- Haplotype with homozygous deficiency BH2, TUBD1-related
- Phene Name
- N/A
- OMIA ID
- 1939
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2016
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 776 | Haplotype with homozygous deficiency BH2 | 388267759 | 1 | 19 | g.10833921T>C | c.757T>C | p.(H210R) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Original Swiss Brown (Cattle) | 1500 | 9913 | http://purl.obolibrary.org/obo/VBO_0000328 |