ZMP
NP_001099135.1
Ensembl ID:
Description:
CDK5 and ABL1 enzyme substrate 1 [Source:RefSeq peptide;Acc:NP_001099135]
Human Orthologue:
CABLES1
Human Description:
Cdk5 and Abl enzyme substrate 1 [Source:HGNC Symbol;Acc:25097]
Mouse Orthologue:
Cables1
Mouse Description:
CDK5 and Abl enzyme substrate 1 Gene [Source:MGI Symbol;Acc:MGI:1927065]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa30379 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa30379
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089207 | Essential Splice Site | 227 | 525 | 3 | 10 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3540 (position 56947)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 4484717 |
| GRCz11 | 2 | 4325666 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGTCCACTTCATTAAAAACATAAGACAGCATGATATGCGCAATGGAAGG[T/A]ATGCATTACATCAAACCCAACAACCCACACACAGACTCTCAGAGAACAGC
Long Flanking Sequence:
ACAAAAGATAAACTGTGTGACCTCACGTTGTTTCTATGTCACTTCTTGCGTGTGTTTTGTTGTGAAATGTAGTTTAGGCAAAGTTGTCGGCGATTCTTCCTATTTTAACGTCATGCTATGTGAAAGTCCCTGTCTCTGATCCATCTCGCAATTTAAACACAGCACCGACTGAACGCTACTCCAGATAGTTATACAGTGTGAAAACATCCGTGACACAACTATGAAAATTGTGAAGTCTGAACTCGGCATTAGTTTGCTTATGTCTTGGGTCTACTCCGACTGTTTACATATGTTGATATGCTGTGCAATGTTGCAGTTAGTATTGTTGCATTCGCATGATCTCAATTGCCATATGAAGTGTTCTTTTCCTTAGCGAAATGTAATTATGCTGCTTTGTTTGATCTAGATGCCGAACTTTATCCGGTTCACCCCGACCAAAGAGTTTCAAGAAGGTCCACTTCATTAAAAACATAAGACAGCATGATATGCGCAATGGAAGG[T/A]ATGCATTACATCAAACCCAACAACCCACACACAGACTCTCAGAGAACAGCACCCACACCAAACCAGTGTGTCAGCAAAAAACACCCGCGCAATTTATTTAAAGACTTTCCCTGGTTCTGCTGATTTGTTTTTGTGTTTAATTATATGCATTTATATTTTTTTTTATTTTTTTTTATTAATTTTAATCAAGTTCTTTTAATTTTAACTCCTTATTTACATTTTAATGGAATTTTCCCAGCATTAGATGTGTCCACCAAACCATTTGGAAACATTACTTTTTTTTTTTGTTTATTTTGGTTTTAAAACAAGACCACTTGAGGTTGTAGATTCTGAAAAAGGACATAATGTGCATTTGTGTGTGTTTGTGTGTGTACAGGTTTAGCAGGCCTTATGAGGACTCAATCGATTGTCCTCAGTTACAGTATATAGTAAGATGTAATCTGCAAGTATTCTTGTTTACAAAATGACATTTTGCTGGTCACCACTAATTGAAAAGGCTT
Associated Phenotype:
Not determined