Genomic Feature
u506
Notes
Comment | Citation |
---|---|
mutation sequence details exon 2, pitpnc1a wild ... |
Ashlin et al., 2018 |
The predicted mutant protein lacks two key inositol binding residues (N90 and ... | Ashlin et al., 2018 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Unmapped
- Nucleotide change
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp deleted in Exon 2 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
- None
- Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None