Genomic Feature
hg94
Notes
No data available
Variants
- Variant Type
- Insertion
- Variant Location
- Unmapped
- Nucleotide change
- Variant Notes
-
Insertion 5bp in exon 2, cDNA: 694_695insTAACC, p.Ala232Valfs*20
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 5 bp inserted in Exon 2 (1)
- Transcript Consequence
- Frameshift (1)
- Protein Consequence
- Amino Acid Substitution: Ala>Val at position 232 (1)
- Flanking Sequence
- None
- Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None