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 are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17726 | Essential Splice Site | Available for shipment | Available now |
sa45843 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa17726
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:
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
Mutation Details
Allele Name:
sa45843
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000110598 | Essential Splice Site | None | 240 | 7 | 13 |
ENSDART00000122282 | Essential Splice Site | None | 242 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 25 (position 5174596)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 25 | 4481291 |
GRCz11 | 25 | 4607818 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCAGTAACAAGCTCTGTGACCAGCAGCGGTCCAAACCAGGTTAAAAAGG[T/G]GAACAAATAACTACTTTCAAGCATCCAGTTTTATGAAATGTTGACAGTTT
Long Flanking Sequence:
ATTTTTGTTCGTTTTTGTTTTAATAATGTCAATATAGCTTTGCTTAGTAATTATTTTAAACCGCGCCCATATTGATTTTAATTTTCTTCTCACTGATTGGCTGATGTGCATGTGACCCGCAGGACTTCGATCTCGCGTATGAGCAGTCGAGAGAAGATCACTCTGCATGGGCGAGAGAAACATGCTCCGCCCACTCTTCAGACTCTGCCCACAGAGGAGGATGAGGACGAGTCGACACGCACAGCCAGCCAATCAAAGCCCTCCAGCAGCTCCAGCTCAGAGGAAGAGAGCGAATCAGAGAGTGACGCAGAGTCAGGTGACCAGACCCCATCCATTTTTAGTCTGTCAATCAAAAACGGCAGTAACTAACTAACTGATGATGTTTGTGTTGTCAGAAAAAGCCAAAACTCGAGAAATGATCAACAACTTGAACAACAAGCGAAACGCAGCACCAGTAACAAGCTCTGTGACCAGCAGCGGTCCAAACCAGGTTAAAAAGG[T/G]GAACAAATAACTACTTTCAAGCATCCAGTTTTATGAAATGTTGACAGTTTTAACATATAGTTTAGAGTGTGTTCAAAACTAAATATTTGGTACGATTTTGAGGGTTTCATACAATGTATAGTACTATTATTCATCAAATTAAAAAAGCAAATGTATATAAAAGTTGTTTTATTTTAGTAAAATTGAGGTTGTTAATATAATATAATATAATAGAATAGAATAGAATAGAATAGAATAGAATATAATATAATATAATATAATATAATAAAATATAATATAATATAATATAATATAATATAATATAATATAATAAAATAAAATATAATATAATATAATATAATATAATATAATATAAAATAATATAATATAATAAAATATAAAATAGTATAATATAATAAAATATAATATAAAATAATATAATATAATATAATAAAATATTATATAAAATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATAAAA
Associated Phenotype:
Not determined