Genomic Feature
hu5935
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 5: 25770594 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>T at position 985 in Exon 3 (1)
- Transcript Consequence
- Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation: Lys>Stop at position 329 (1)
- Flanking Sequence
-
TCGCGGATGATAAAAAAGGGTCTAAAAACATCACGTTACGAACACGGCACATTTTAATCGAAGATGGCGGCGCTCTCCATATTGGGGCTCCAAAATGTCGATATCGCTCTCTGGCTACTATCACCCTTGTTGGCCGATCAGATGAGACCGCCGTGACTGAGGTTCCAGGGATGGGCCGCAAGTTTTTAGGTGTGAATTCTGGAGGAACTCTGGAGCTTCATGGGTCAGAAAGGATGTCTTGGACCTTCCTCACTCGCACCGTGCCTGCTTCAGGATTGGCTACGGGTGACCACGCCTTTCAGAAAAACTTCAGCCGTGGAATTAACCTCCGTGTGGTTGATCAGGACACGGCAGAGGTTCTGGTTAATGAGCGCTTCGACACGCATGAATCTCAAGATGACAGTAAAAGGCTGGGTGAGCTGCTGAAGGCTCTGCCCGCAGGACGCATCGTTGCACTGGCCACTGGAGATTCTGCGGTGAAGAACCTGGTGTTTGAGACC
A/T AACAAACCATCCACGATCTTCTAGGGAGCAACTATATCAGTGATCTCAAATACAGGTGAATAGCAGAGGCCTTTTAAAATCAGAGGGCTTTATACTCTGTTCTTGTTGTTATTCTTAACACTGCTTTTAATCCTTGGTTTAAATAATATTTCACATTTGTAATTTGAGATTTAATAAGTGGGTTGAAGTATAAGTTGGGGAGTTAAGGCCAAGGTGCGAATTACAGGGGGGTTTAGGGGATGCCCCCCAATTAACACATGATCATTCAACAATCTGAAACCAGCAGATCTAGAGGACCAATAGACACTGTAAGTGTTCACAAGGCACATTTACATTTATGTCTACAAGTAGCCTTAAAGTAGAGTACAATTAGTATAATTTTGTATAAATCTTGTATAATTTTACCCACAGTAACTACTGTATGAGCTACTCAGAAGTTATTTAAATGTACTCACAAAATATCCCTCAAATCACTGAAAACTATTTAATAAATTAAATGT - Additional Sequence
- None
Fish
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Supplemental Information
- Genotyping protocol
- None
- De Angelis, J.E., Lagendijk, A.K., Chen, H., Tromp, A., Bower, N.I., Tunny, K.A., Brooks, A.J., Bakkers, J., Francois, M., Yap, A.S., Simons, C., Wicking, C., Hogan, B.M., Smith, K.A. (2017) Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover. Developmental Cell. 40:123-136
- Smith, K.A., Lagendijk, A.K., Courtney, A.D., Chen, H., Paterson, S., Hogan, B.M., Wicking, C., and Bakkers, J. (2011) Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development. Development (Cambridge, England). 138(19):4193-4198
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