Genomic Feature
p319
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 6: 8521930 (GRCz11) (1) Details
- Nucleotide change
- G/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- C>A (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Leu>Met at position 1287 (1)
- Flanking Sequence
-
AACCACTTGAGAGAGAGTAAATAGTAAGTAAATTTTCATTTTTTGGGTGAACTATCCCCTTAATGTAATTTTTAAAATTATGCAGATGGTTCATTTTCTTATCATTTTTAATGCAATGAGTTTACTCACTTCTTTAAAGTAAAGCCAGCTAATTGCTTTTTACAGTGAAGCTTCAGTTTTGTCACTATAAATGAAAGTACCATACAAATTTAATAAATCTAAATTTTATGTTGAATGATGGTGGTCCGTTATTTTATTTTTTTCAATTGCTATTTGAAACATGCATGTAGACACTTTACTTGCATTAAAGATGAATATGCTATGTATAAATAAATAATTAAATTGCTAAATTTAATTTGATGAAGACACCAAAATAAGATGTCTCGTTTTTGACCCTCATACCTGTGTGTCTTGAACTTGAGAACTCAAGCTAGCCACATCCTTGCTAAGCTTTATGTTCTTTCCCTCAGCTTCATTGAGAAGGTTGGTAACGCTCTCCA
G/T CTCCACCTGCAATAACAAAGGCCACATGTTAAATACACCATTTGCACAAAATGAATGTCAAAAACAAGGGTGTTTCTCGGATTTTATTTGTCCATTCGTAAATTGTTTCTTCGGCTTATCCCTTATTTATCAGCATTTATATATATATATATATATATATATATATATATTATAATTTTTTTTTCTTTTTTAAATATTTCTCAAATGATGTTTAACAGAGCAAGGAAATTTTCACAGTATGTCTGATAATATTTTTTCTTCAGGAAAAAGTCATATTTGTTTTATTTCGGCTAGAATAAAAGCAGTTTTTTTTTTTTAAAAAATCCATTTTTAAGGTCAAATTATTAGCCCCTTTAAGCTTAATATTTTTTCGATAGTCTAAAGCAGTGGTTCTGAACTGGTTTGGCCATGGGACCCACATTTTTACATGGTCATAAAGCCGCTACCCAAATTTTTAGGAACCATAATATAATTTTAGGAATTAGAATTAACTTGAGTTT - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| myh11ap319/p319 | Homozygous | ♀+/- ♂+/- | 2 figures  from Abrams et al., 2016 | ||
| myh11am498/+; myh11ap319/+ | Complex | Fig. 2 from Abrams et al., 2016 | |||
| myh11ap319/p319; p311Tg | Complex | Fig. 5 from Abrams et al., 2016 | |||
| myh11ap319; p311Tg | Complex | ||||
| axin1tm213/+; myh11ap319/+; p311Tg | Complex |
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Supplemental Information
- Genotyping protocol
- None