Genomic Feature
hg124
Notes
Comment | Citation |
---|---|
Deletion 8 bp in exon 5, cDNA: 974delTTGGCACC, p. Leu325Hisfs*39 | Nagai-Tanima et al., 2020 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Ambiguous Details
- Nucleotide change
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 8 bp deleted in Exon 5 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Amino Acid Substitution: Leu>His at position 325 (1)
- Flanking Sequence
- None
- Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None