Haplotype with homozygous deficiency AH2
Phenotype Details
- Phene ID
- 4077
- Name
- Haplotype with homozygous deficiency AH2
- Phene Name
- N/A
- OMIA ID
- 2134
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 858 | Abortion due to haplotype AH2 | 388272903 | 1 | 3 | N/A | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Ayrshire (Cattle) | 105 | 9913 | http://purl.obolibrary.org/obo/VBO_0000120 |
Molecular Genetics
Null et al. (2017): "A splice acceptor variant at 51,267,548 bp in the RNA Polymerase 2 Associated Protein (RPAP2) gene was the most likely causal variant in the [AH2] haplotype. RPAP2 is an essential component of the RNA polymerase 2 holoenzyme necessary for transcription of snRNA species. Experiments with mouse knockouts also found a deficiency of homozygotes, suggesting that RPAP2 is necessary for embryonic development."