Genomic Feature
sh516
- ID
- ZDB-ALT-200624-2
- Name
- sh516
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- van Eeden Lab
- Current Source
- Other Pages
Notes
| Comment | Citation |
|---|---|
| Both of the closest mapped human mutations (W502X at position 502 and G491S at ... | Metzner et al., 2020 |
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 5: 35563060 - 35563061 (GRCz11) (1) Details
- Nucleotide change
- CG/-
- Variant Notes
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 2 bp deleted (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
GGTGACGACCTTGCAGTGCAGCAACGCTTCTCGAGCGAACTTGACCGCGGATGTGCATGAGTTCGGCAGCCTGTCCGGGGACATTGCCAACCTGAGTTCAGAAGGTACAGCAGCGCAGACAGCACCGGATATGGACGGACCGCGAGCGGCTTCGTGCCAGTTTGAACAACTGTTGCCCGCGAGCATGACCCATTATGCCCACCCGGAGCTCGAAAACGGACCGAGCCATAGCTTCGTAAAATCCACATCAATGTCTGGAGAGTTTGCTGGTCCCATGGAGGATTACACGAATCTCTATAATGTCAGAATCAAGACCGAGATGATGCCCCGTGATCTGAATGACACCTGGGCGTACCCGCATAGGTACGCCGAGGACTCTAACGGCCACTACGGGCCTCCAAAGCAAAGGACACCTTATGCTACTGGCCACGAACCCCCGTTTATCTGTAACCCTTATGAATACGGCCGAAGTACTGCTCTGGTTCCGCGGGAGCGACCTC
CG/- CACGAGCAGTGGTACCCGGGTGGGATGCTGACCCGTCATCCGTACCCTAACGTGCCTGGCGTGAAAAACGAGATGGGCGAATGGATGGATGTAACATCGTTCACGGATGGCAGGTAAGAGGCGGCTCTGCTGCGTTTTGTTTGCTCTGCGCCACAACTGATTTATTTAGTTTAAAAGTTTATTTCCAGATCTGCACGCGCCCCTTAAAATTATACCGCGCGCATTTGCACCTCTCAAACGGGACAAGAGTTTTTTTCGACCTAAAGAAATGCTTATTTGCATTTATATTTACTCTCTGAGTGCATAACCGAAATGAATAATACACCGTGCACAGGGTATATAGAAAATAGTTAAACAAAAACATTTGGAGTACATACAATTTTTTAAGAGGGTTTTCAAAGCCAGGCATCTCCCAGACATATTTTCAGTCGCTCCGAGGACCTTTAGAATAATCATAAGTAAATTTTGATAAACGTGACAACTGTAATTAAACTATATAT - Additional Sequence
- None
Fish
Supplemental Information
- Genotyping protocol
- None