Genomic Feature
ca22
- ID
- ZDB-ALT-160809-1
- Name
- ca22
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one point mutation (1)
- Protocol
- embryos treated with
- Lab of Origin
- Childs Lab
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 20: 26690568 (GRCz11) (1) Details
- Nucleotide change
- A/G
- Variant Notes
-
premature stop in the conserved FOX DNA binding domain
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- A>G in Exon 1 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
ACGAACTCAGTCTTTCCATTTCGTTCTCAAAAAGGGATTACAGCCGCCAGGATTAGCACGAAACTGTGAAACTGAAAACGGTGATAACGACCACGAATACGCATGTTGCTTGGATATTTTTTCGCACAAACAGCAGGCTTTTTATTTGCCACACCACTCCACGCCGTACAGAAGACGGTCACATTTATGTCGGATGCGTGATGCTTGTATTATTACAGGTTTTCAGCTGAAGCGAGGCGTTTATCCTCAGTTGTTTTTTCTTAAAAGTCGTTATTGGTTGTCGATCGATCCTCTAGGGTTTGCTTTACCTTTTTCTTCAGACAACGGGCTGTTTTCGTACGTCACAGCTGGACCGATGACGACTGAAAGCTCTCACGGACCCCTGGGGTCGACGCCCCCGACAAGGACCAGTCCAGCGACCACCGCGCTGCATCCAGGACTGATGAACTCGACAGGTAACTTGGAGGAGCATAGCGCAGTGTCAAAGAGTAAAAAGACCA
A/G CTCAGGTCTGCGACGCCCGGAGAAACCGCCCTACTCCTACATTGCTCTCATTGTGATGGCAATTCAGAGCGCACCAACCAAAAGACTGACACTTAGTGAGATTTACCAGTTTTTACAAACACGCTTCCCGTTTTTCCGAGGCTCTTATCAGGGCTGGAAGAACTCTGTTCGGCACAACTTGTCTCTGAACGAGTGCTTTATAAAACTACCAAAAGGTCTTGGGCGACCGGGTAAAGGACACTACTGGACCATAGACCCAACAAGCGAATTTATGTTCGAGGAAGGGTCATTTCGGCGAAGACCCCGAGGATTTAGGAGAAAATGTCAGGCTATGAAACCAATGTACAGAATGATGAACGGCCTAGGGTTCGGTTCCGCCATTTTACCTCAGAGCTTCGACTATCAATCGCCTACCGGTGCACTTGCGTGCCATAGCAGTGGCTATAACTTGGACCTGTCCGGCAGTGGATATGAATCAATAAGCAGTGGTCACCACGGCC - Additional Sequence
- None
Fish
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Supplemental Information
- Genotyping protocol
- None
- Ryu, J.R., Ahuja, S., Arnold, C.R., Potts, K.G., Mishra, A., Yang, Q., Sargurupremraj, M., Mahoney, D.J., Seshadri, S., Debette, S., Childs, S.J. (2022) Stroke-associated intergenic variants modulate a human FOXF2 transcriptional enhancer. Proceedings of the National Academy of Sciences of the United States of America. 119:e2121333119
- Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Stroke Genetics Network (SiGN), International Stroke Genetics Consortium (ISGC) (2016) Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. The Lancet. Neurology. 15(7):695-707
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