Lactoglobulin, beta, aberrant low expression
Phenotype Details
- Phene ID
- 2832
- Name
- Lactoglobulin, beta, aberrant low expression
- Phene Name
- N/A
- OMIA ID
- 1437
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2006
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| PAEP | 280838 | 11 | progestagen-associated endometrial protein |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 428 | Beta-lactoglobulin, aberrant low expression | 280838 | 1 | 11 | g.103255964C>A | c.-215C>A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
Molecular Genetics
Braunschweig and Leeb (2006) showed that a "C to A transversion at position 215 bp upstream of the translation initiation site" of the beta-lactoglobulin (LBG) gene segregates with aberrant low expression of beta-lactoglobulin. Other symbols for this gene are BLG and PAEP, the latter being the official NCBI symbol.