ZMP
LOC560088
Ensembl ID:
Human Orthologues:
CAPN13, CAPN14
Human Descriptions:
calpain 13 [Source:HGNC Symbol;Acc:16663]
calpain 14 [Source:HGNC Symbol;Acc:16664]
calpain 14 [Source:HGNC Symbol;Acc:16664]
Mouse Orthologue:
Capn13
Mouse Description:
calpain 13 Gene [Source:MGI Symbol;Acc:MGI:2685789]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa43000 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa43000
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 |
|---|---|---|---|---|---|
| ENSDART00000122583 | Essential Splice Site | 386 | 523 | 9 | 13 |
Genomic Location (Zv9):
Chromosome 17 (position 45782224)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 45631456 |
| GRCz11 | 17 | 45614708 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATACTTTCATACACCACCTTACAGCTGGTGGTGACATCATTAAGACAG[G/A]TACTATTATTCAGTGCAAACACATGCGGTTTTGTATAAAGCGCTAACATA
Long Flanking Sequence:
GAGTGGCAAGGAGACTGGAGTGATGAGTAAGTGCTGTAAAAAATGTCACTTCACAAACAAAGTAGTAGGATTTACACTGAATGTACGCATGTGTTGGTCATTTATTTTCAGGTCACCTTTGTGGGAGACGGTTTGTGAGGAGGCCCGCAAATGTTGCCGTGAAGTTTTAAATGATGGGGAGTTCTGGTGAGCACAACGTGTTGAGTACTGTCACGTGTCACGTCATCTCTCCCTTTATTAAAAAATGACTTCCTCATTTACAAAGTACTACATCCCATATTGACTTATTTACACACATCTTTGCTGCAGGATGTCGATGGAAGACTTCACCAGACTTTTTGAAAGCATAGATATCTGCTGTCTCTGTCCTGATTTTCTGGATGGTTCCTCTGATTGCCACTGGACCTCCAAACGCCATTTTGGCAGATGGAATGCAGAGAAATTCATGTATAATACTTTCATACACCACCTTACAGCTGGTGGTGACATCATTAAGACAG[G/A]TACTATTATTCAGTGCAAACACATGCGGTTTTGTATAAAGCGCTAACATATCAATCAGTTCCAGTGTGGTGAAATGACAAAAGGCTATTAGTTCTACACAATACAGCCAAGATCAGATTTGATTCAGTAAACAGATTTACTCTCTATAGCAATTTATAAATGTAATTATTCTCAGAAATAATGCCATTTTTATTGTTCAAAATCTGTCTTTAGCAAAGCATACAGAACAGTATTTTGCAAAATACCAACAGCACATCAACGAAATTCTTTTATTTTGTGAAAAAAATAGCTATAAAAATTAGAGAAAGCAGCTTGAAAAATCTGAAGGCTACAAATTTATTGAGAGTTTAGAGACCCTTGGCTTGAGTTACTTTGAGTTTCTCTTCTGGAGATTTTCAATCAGGTTTAGGTCAGGACTCTGGTCTGCCAATTCGTTATTTCAATGTTATAAGCTTCCCAATTTGCTGCGTGATGGATATTATTGTCCTGCATTAAATCTT
Associated Phenotype:
Not determined