Genomic Feature
sk16
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 22459959 (GRCz11) (1) Details
- Nucleotide change
- C/T
- Variant Notes
-
mutant protein is truncated prior to the transmembrane domain of Pdgfra
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- G>A in Intron 15 (1)
- Transcript Consequence
- Splice Site, Exon Loss of Exon 14, Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
TGGTCATAATATATCACATTTTATCCAATAAATGCAGCTTGGTGAGACTTTTTTGCATTAAAAATATAGTATAGGCCTGAGCTGTCACTGAAACACTTGTTTAATGCAAAAATGATTTCAACAATTTGCAAAAGCTGAAAAACGCTCAAATTTATGTATATATTTTACACTGCTAAATGCAATTAAATGTTGCAGTGAGTTAAGAGTAGAATTAATTAAAAATGGAAACCTGTAACATTTAGCAAATTTAACATCTATATATTGCTAGTATTCTGTCCACCTTTAATTAGCAGGACAGATACAAGAGAACCAGCACTTGTACTGTATGTACATGTAGATACAGATTGGTTGACAAAGATTCTCCAGTTGACAACAATCAAAACATAAACAAATGTATGTAAAATATAGCCAAAAAAGATGTAGAGGTGCATTGAGATAAACAAACAGCAAGCACAGCCAAAAGCAAACATGTGCAAATGTAGGTAAAAGTAAAGCTCCTA
C/T CTTTAACCTGAAGGTAGAAACTGTAGCTGGTACTTATGCTGCCTATTTCTGCCTTGACGGTGTAGTTTCCACTGTCCTCTGCTTTAGCTCTGATCAGGTTCAACACACCCTTGTAACTGAGGAAATACATTATAACAGATTTAAAAATATTTTTTTGTTGTCAATGTATTCATAGAAAAAATTATATTTCCTTTAAAGGGGTCATTAACCAAGATACTTCTCTGTATCTTTTTAAGATATAAGAGGCCATTGTTCTATGAAAAACATTGTGTTGAGTTTCAGAAGTGAAAACATTAGTCTAAAACAGCTTAGTCTTTGAGTCAAAACCTGCCAAATCAACAGGTTCTGGAATAAACTTCTTTATTATGTACTGTAATTGTGTGTCTAAACTCTTCCTCCACAGGAAAAAGAATCTCAACACCTGCTTCGCTGCCTGTTTATTTCTGTCCACTGATTCAGTATGTTAGAGAGGCAGATGCAGGTCTACAAAAAACAAATGA - Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None