ZMP
ccm2
Ensembl ID:
ZFIN ID:
Description:
Malcavernin [Source:UniProtKB/Swiss-Prot;Acc:Q6DRP4]
Human Orthologue:
CCM2
Human Description:
cerebral cavernous malformation 2 [Source:HGNC Symbol;Acc:21708]
Mouse Orthologue:
Ccm2
Mouse Description:
cerebral cavernous malformation 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2384924]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37000 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37000
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000003834 | Essential Splice Site | 70 | 455 | 3 | 10 |
Genomic Location (Zv9):
Chromosome 20 (position 18859165)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 18887422 |
| GRCz11 | 20 | 18787005 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTATTCTAGGAAGGCTCTATAATTAATAACATTGTTATTATTGTTGTA[G/A]TATCTGGGACAGCTGACCTCAGTTCCTGGATACCTGAATCCCTCCAGCCG
Long Flanking Sequence:
AACATTTTTAATGAATAGCCTAAGAAAGCATTTAGGTAGGTCCCACCACAACTTTTTTTTTGTCATAATTGTATATTACAAAAAATCCAAAATGCCTTCATACACATGATTTGAATGACTTGGTATGTGATCTATTTGCAGTTGTTATAAATGTTGGATTACCCTACAAGTTCAAAAAAGTTATTAATCCGTGGGTCACATGCGTTTCGAAGTGTGGGTTGTGATCCTATGGATTATGGATCAACCGTGATCAGTTACATCCCTAAATTCCACTGTTATGCTGCCGATACCCAAATCTATATCCACTTCTGTGATCCCTCCCATAGCTAGTTATTCAGTACTTCTCCCCTGGATGTTGATGCAATCTTTTAATGTGCCCTGTATTTTTTTGTGATTATTTATAAATTAATATTTTGTTTTTAATATTATTTTCTTGTTAACTGTGCTCAATTGTATTCTAGGAAGGCTCTATAATTAATAACATTGTTATTATTGTTGTA[G/A]TATCTGGGACAGCTGACCTCAGTTCCTGGATACCTGAATCCCTCCAGCCGCACTGAAGTTCTGCAGCTCATTGACAATGCCAGGGTAAGCTCGATACTCATAAACTGTTTTATTTTGCAACATGAGGATATGTTTTCACATTGGTTCTCTTATATCTTGTGCAGAAGTCTCATCAGTTGGCTGGGCAGCTGACCTCAGAGCAGGATGCTGTTGTCAGTTTATCAGCGTACAATGTGAAGCTTGTGTGGCGTGATGGAGAGGACATCATTCTGCGCGTACCCATCCACGACATTGCAGCTGTGTCCTACATCAGAGACGACTCGCTTCATCTAGTGGTGCTAAAAACAGGTATACGGTAATGAGGTCAATTAATGAGCATTAAATTAAACACAGTGGGTTCAAGATTTAGAGTGAAATATGTGAAAAATATGTAAAGGTTTGTATAATTTGTGTTTGCAGCTCAGGAGCCCGGAGGTTCCCCATGTCATAGTACAGAGATG
Associated Phenotype:
Not determined