ZMP
si:dkey-223d9.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
CABLES2
Human Description:
Cdk5 and Abl enzyme substrate 2 [Source:HGNC Symbol;Acc:16143]
Mouse Orthologues:
CT485612.1, Cables2
Mouse Description:
CDK5 and Abl enzyme substrate 2 Gene [Source:MGI Symbol;Acc:MGI:2182335]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37619 | Essential Splice Site | Available for shipment | Available now |
| sa37620 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37619
Status:
Available for shipment
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:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000030811 | Essential Splice Site | 168 | 494 | 2 | 9 |
| ENSDART00000141474 | None | None | 178 | None | 4 |
| ENSDART00000144643 | Essential Splice Site | 168 | 286 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 23 (position 9219703)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 9177844 |
| GRCz11 | 23 | 9112814 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATAATTTTCAAACGTGTTTCATTGTTTTACCCAACTGTGTGTGTCCTCA[G/T]GAGCCGGAATGCGTCTGGTTCTCCTCGTCCACGCTCTATGAAGAAAATCC
Long Flanking Sequence:
AACTGTTAACTGTTTGCTTGTGAAATGCTCATTTTTCCACTTAGACTTACTTTGTGTCCTGTAAATAGTGAATGCGCTCTTGGCGAGACGCAGCTGACTCTTAAAGGGAATGGGAGATGAAACTGTAATTGGTTTATTCTCAAAACACACCTATAACTCATTAAGAAAATAAACTCAACCCTTTTAGACCATGCGTCCTGGCGCAAGGCAGATTTCCCGTCTTTAAATTAGCAAAAACGCGTCCTGACACGCCCTGAAAGCGGTTGCGCCTTGCGTTTTGCGCTCTGCGCATGGACCGTCAAAATAGAGCCCTAAATCTGTAATGTATCAATTACATTGTTACACTAGTAGGTGGCGACTGTTAAATGTACTTAACATTAAACAATTCGCAAGATTAAAAAAAACAAACTTCAAAAGCCAAATGTGAATGGGTGGCTAAATGATTTTCTGCATAATTTTCAAACGTGTTTCATTGTTTTACCCAACTGTGTGTGTCCTCA[G/T]GAGCCGGAATGCGTCTGGTTCTCCTCGTCCACGCTCTATGAAGAAAATCCACTTCATCAAGAACATGAGGCAGTATGACACCAGGGGCAGCAGGTGTGTATATTCACCTCTCTGTGTGCGTGTGTGTGGCTTTTTGAGTTGTTAATGCCAGTGATAACAGCACAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTCTGCTTTTCCCACACTTGTCTTGTTTTCCCTTATCTGTGCTTAAAAACAAACATTCTGCCTATCGTCTTCATTCTCTTCTCAGTTTGGCAAGAGTCCATTTACACTTGCTTTATGATGCAATTTGTTATGTTAGGAGGATATCATATCTGACAGTTTATACACAGATATTGAACACACATTTTGTACTCATTCTACTTGTACTCATCAAACGGACCATGTCTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37620
Status:
Available for shipment
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:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000030811 | Nonsense | 299 | 494 | 5 | 9 |
| ENSDART00000141474 | None | None | 178 | None | 4 |
| ENSDART00000144643 | None | None | 286 | None | 5 |
Genomic Location (Zv9):
Chromosome 23 (position 9230550)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 9188691 |
| GRCz11 | 23 | 9123661 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATCTGACTCTACCCCTGCCCTTTTCCAGAAACAGCATCCCTCGCAGTTA[T/A]CCGTCCTCTCGCCTCAACAGCACCGTCGGACTGGACCTGGGTATGATACA
Long Flanking Sequence:
TTATTATTATTATTATTATGATTATTATTATTATTAATAATAATAATAATAATAATAATAATAATTCAACAATTGAAAATAAGCATCTGTCCCTGTGTTTGTGTCAGTGACCCACTTCTGGATGCTCAGCGGAGGAGACACTCGTCGGGAGGGATCTCCACCACTCTAGAGATGCTTCCCGGGCTGGAGGGTGTGGAGCTGGGCCTGTACGGCAGGGTAAGAGTCTTTCATCCTGTCTCTGAAGCTTTCAGTCAGTCAGAGAGTCGACCTGCTCAGGAATGACAGCTTTATGTATGTCTTTATTTGATGCACCCGGGAGGTTAAAGTGGCTGTCAGGATGTCTCAGCTTGATAGATGGCTTGTTCTCTGCTCTTGTTTGTTGTACAGACAGTGTCGTACGCTCAGTTCCTGTACCCAACTAATGCTCTGGATCGTCACAAACCCTCGGTGGATCTGACTCTACCCCTGCCCTTTTCCAGAAACAGCATCCCTCGCAGTTA[T/A]CCGTCCTCTCGCCTCAACAGCACCGTCGGACTGGACCTGGGTATGATACACTTACACAAACACCAACATTCTGGAGCTTTTTAGTAGACACAATGATTTTTTATTCTGTAAGAAGACCTGTTTGCTGTTTTCATTATTGGGAAATGAATACTCAAGGGTTAGCTCATCCAAAAATGAACATTTCCTCACTTTCAGCTTAGTCCCTTTTTATTTATCTGCCGTCGCCACAGCTGAATGAACCGCCAACTTATCCAGCGTATGTTTTACACAACGAATGCCCTTCCAGCTGCAACCCATCGCTGGGAAACACCCATACACACTCAATCTCACACATACACTGCCAATTTAGCTTACCCAGAAGTTTAACAAAAGAAACTCAAACAGGTTTGGAACAAGTAGATGATAAGAAAACAATGGCAGAATTTATTTTTAATAGGGCTGTGCAATTAATCGAAAATCCGGTTTCGATTACAGCTCATAACGATTATGAAAAACCATTA
Associated Phenotype:
Not determined