ZMP
NP_001128580.1
Ensembl ID:
Description:
calpain-7 [Source:RefSeq peptide;Acc:NP_001128580]
Human Orthologue:
CAPN7
Human Description:
calpain 7 [Source:HGNC Symbol;Acc:1484]
Mouse Orthologue:
Capn7
Mouse Description:
calpain 7 Gene [Source:MGI Symbol;Acc:MGI:1338030]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44395 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa31119 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44395
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043112 | Essential Splice Site | 123 | 815 | 3 | 21 |
| ENSDART00000043112 | Essential Splice Site | 123 | 815 | 3 | 21 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3563 (position 166531)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 36183892 |
| GRCz11 | 16 | 36192541 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGGCCATTGAGCTCTACACTCAGGCTGTAGAGTTGTGCATTCAAGCGG[T/C]GAGGCCTCAAATATGGAGAAATGATTCCAATCAGATGTCAGTATATTCAG
Long Flanking Sequence:
CATATTTTACTGGACTGTCCTGTTTTTATTGATTCCAGAAGGACTTTTTATGAAATGAACTCTTTTAAGGACATTTTTGACAAAGTGAAACCAGAAAAGATTTTAGAATTTTTATCACATATTAACACAAAAAATCTTATTTAATTTATGTTTTATTTTGTTTTTTTATTTTTAAATTGTATATTTATTGTTGAAAGATTCCTGCCATGAAGATAGCCTTGGTTGCTGACATGGCACTAAATAAAAAATACATTACATTACATGAAGGATTTTTGTGTGAACTATTCCCTAAGACCTTCCTTTAAGACCTTTCTGTTAACTGACTGAATGGCTGTGATCAGTTCAAGCACAGAGCAGTGACCCTTTGAAGAGCAAGCATCAGCTGGATCTGGAAAGAGCGTATTTCCTGGTGACACAGGCTTTTGAAGAGGATGAGAAGGAAAACGCGGATGAGGCCATTGAGCTCTACACTCAGGCTGTAGAGTTGTGCATTCAAGCGG[T/C]GAGGCCTCAAATATGGAGAAATGATTCCAATCAGATGTCAGTATATTCAGAGATTTGGGGTTATTTATTCATTTATTTATTTGTTTATTCATTTGTTTATTTTCTTTTTTTTTCTTTTGAGAATTTTTTTTAGCAAGGATACGTTAACTTGATCCATAGTAACTACAGCAACAGCATTGATAGTCAGTGTTGTGTAAGTAACTTAAAAAGTAATTTACTAATTACTAACTATATAATTGTAACTGTATTTAAGAAACTTTTCTAATTACTTTATCTGAAAAGTAACTTACTCAACAAGTAATTTACTTACTTGACTAAATACTTTAAATCCACATAAATCTCAATGCATAGACGATAGAAATTAATGTATGATTATAGAATTTTGACTAAAATATTTTAGCTGAGTCAAACATGACCTTTTAGTTTTGCTTTTAAAATAGGACTTATTAACAATATATTCATTAAAACACAAATCTTTTCAAAGTAATTTCATACATATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31119
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043112 | Essential Splice Site | 123 | 815 | 3 | 21 |
| ENSDART00000043112 | Essential Splice Site | 123 | 815 | 3 | 21 |
Genomic Location (Zv9):
Chromosome Zv9_scaffold3563 (position 166531)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 36183892 |
| GRCz11 | 16 | 36192541 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAGGCCATTGAGCTCTACACTCAGGCTGTAGAGTTGTGCATTCAAGCGG[T/C]GAGGCCTCAAATATGGAGAAATGATTCCAATCAGATGTCAGTATATTCAG
Long Flanking Sequence:
CATATTTTACTGGACTGTCCTGTTTTTATTGATTCCAGAAGGACTTTTTATGAAATGAACTCTTTTAAGGACATTTTTGACAAAGTGAAACCAGAAAAGATTTTAGAATTTTTATCACATATTAACACAAAAAATCTTATTTAATTTATGTTTTATTTTGTTTTTTTATTTTTAAATTGTATATTTATTGTTGAAAGATTCCTGCCATGAAGATAGCCTTGGTTGCTGACATGGCACTAAATAAAAAATACATTACATTACATGAAGGATTTTTGTGTGAACTATTCCCTAAGACCTTCCTTTAAGACCTTTCTGTTAACTGACTGAATGGCTGTGATCAGTTCAAGCACAGAGCAGTGACCCTTTGAAGAGCAAGCATCAGCTGGATCTGGAAAGAGCGTATTTCCTGGTGACACAGGCTTTTGAAGAGGATGAGAAGGAAAACGCGGATGAGGCCATTGAGCTCTACACTCAGGCTGTAGAGTTGTGCATTCAAGCGG[T/C]GAGGCCTCAAATATGGAGAAATGATTCCAATCAGATGTCAGTATATTCAGAGATTTGGGGTTATTTATTCATTTATTTATTTGTTTATTCATTTGTTTATTTTCTTTTTTTTTCTTTTGAGAATTTTTTTTAGCAAGGATACGTTAACTTGATCCATAGTAACTACAGCAACAGCATTGATAGTCAGTGTTGTGTAAGTAACTTAAAAAGTAATTTACTAATTACTAACTATATAATTGTAACTGTATTTAAGAAACTTTTCTAATTACTTTATCTGAAAAGTAACTTACTCAACAAGTAATTTACTTACTTGACTAAATACTTTAAATCCACATAAATCTCAATGCATAGACGATAGAAATTAATGTATGATTATAGAATTTTGACTAAAATATTTTAGCTGAGTCAAACATGACCTTTTAGTTTTGCTTTTAAAATAGGACTTATTAACAATATATTCATTAAAACACAAATCTTTTCAAAGTAATTTCATACATATC
Associated Phenotype:
Not determined