ZMP
A3KP79_DANRE
Ensembl ID:
Description:
LOC571837 protein [Source:UniProtKB/TrEMBL;Acc:A3KP79]
Human Orthologues:
DYSFIP1, NRARP, PPP1R12A, PPP1R12B, PPP1R12C
Human Descriptions:
NOTCH-regulated ankyrin repeat protein [Source:HGNC Symbol;Acc:33843]
dysferlin interacting protein 1 [Source:HGNC Symbol;Acc:16813]
protein phosphatase 1, regulatory (inhibitor) subunit 12A [Source:HGNC Symbol;Acc:7618]
protein phosphatase 1, regulatory (inhibitor) subunit 12B [Source:HGNC Symbol;Acc:7619]
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
dysferlin interacting protein 1 [Source:HGNC Symbol;Acc:16813]
protein phosphatase 1, regulatory (inhibitor) subunit 12A [Source:HGNC Symbol;Acc:7618]
protein phosphatase 1, regulatory (inhibitor) subunit 12B [Source:HGNC Symbol;Acc:7619]
protein phosphatase 1, regulatory (inhibitor) subunit 12C [Source:HGNC Symbol;Acc:14947]
Mouse Orthologues:
Dysfip1, Nrarp, Ppp1r12a, Ppp1r12b, Ppp1r12c
Mouse Descriptions:
Notch-regulated ankyrin repeat protein Gene [Source:MGI Symbol;Acc:MGI:1914372]
dysferlin interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1915951]
protein phosphatase 1, regulatory (inhibitor) subunit 12A Gene [Source:MGI Symbol;Acc:MGI:1309528]
protein phosphatase 1, regulatory (inhibitor) subunit 12B Gene [Source:MGI Symbol;Acc:MGI:1916417]
protein phosphatase 1, regulatory (inhibitor) subunit 12C Gene [Source:MGI Symbol;Acc:MGI:1924258]
dysferlin interacting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1915951]
protein phosphatase 1, regulatory (inhibitor) subunit 12A Gene [Source:MGI Symbol;Acc:MGI:1309528]
protein phosphatase 1, regulatory (inhibitor) subunit 12B Gene [Source:MGI Symbol;Acc:MGI:1916417]
protein phosphatase 1, regulatory (inhibitor) subunit 12C Gene [Source:MGI Symbol;Acc:MGI:1924258]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17726 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17726
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000110598 | Essential Splice Site | 152 | 240 | 4 | 13 |
| ENSDART00000122282 | Essential Splice Site | 154 | 242 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 25 (position 5170520)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 4477215 |
| GRCz11 | 25 | 4603742 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTATAATCACGCATGTCAAGCATTTRGTATCCATGTGACCCTCTGCCTC[A/T]GGGTGCTGTTGAAGTGTGGGATAGAYGTGGACAGTCGGGACAGTGACGGT
Long Flanking Sequence:
ACTTTCATTACAGACATAATTTGGTGGTCTGTGAGGCGGGATCTGTGGGATGTTTTGGTCAGCTTCATTATAGAGAACATTTGTTCGCATGTGTATGTGCTCCTAAACATAGACATGACGCGTGCAGTGTTAAAGAGACTAGGGTGAAGCGCGACAGCACCTCCTGTGTCTCATTATTGTAATTGTCACAGACCTTATATTTAAAGCGAGCGCTTTAAAGGTAAAAAACCCTGAAAAATAATAATAATAATTAAAAGATATGTTTTTGTTTCCTAAAACGTCATCTCAGAGTGGACGGAAAGCCAAGACGGAGAGAAAAAGTTATTTTTAAATGAAGACGTATTAGTGTGGACATTGCCTAAGATGCACATATCTCCTATTTTTTAGCTTCGTTTACAAGTATTTTCATTGGCGTAAGAAACAATTAAATATATTTTTCAAAAGCTATTCTGTATAATCACGCATGTCAAGCATTTGGTATCCATGTGACCCTCTGCCTC[A/T]GGGTGCTGTTGAAGTGTGGGATAGACGTGGACAGTCGGGACAGTGACGGTTGGACGGCGTTCCACGCGGCGGCTCACTGGGGTCAGGAAGAGGCCTGCAGTCTCCTCGCCGAACACATGTGTGACATGACCGCCGTCAATAATGTGGTACAGAAGCTTTTATCATCCTAAAGAACACTCAGAACTAGAACTGCTTTAAAGACCTTGAGCAATGTGGTGTGGATGCTAACATGGCTAAGCATTATATATTTCTGCAGTAGCTATTAGTTTGAACAGGCTTTATAAAGTTTGTGAAGATAAACTTTGCTTGGATGTTGCCCTGAAAAACTGAACCAGAAAGTTGGAAGAAGTTTTAGATTGATGAATAAATGGATAACCTACTTTTTTTTTTAGCCAATTCAGTTCATTTACCACTGAAAGATTGCATTCTTGCTTTTCTACTGTTTTAGCACAACCTGCTGGTCTTGTAGTATTTACAGTTTGTAAAATGAGACCTAGACC
Associated Phenotype:
Not determined