ZMP
USP54 (1 of 2)
Ensembl ID:
Description:
ubiquitin specific peptidase 54 [Source:HGNC Symbol;Acc:23513]
Human Orthologue:
USP54
Human Description:
ubiquitin specific peptidase 54 [Source:HGNC Symbol;Acc:23513]
Mouse Orthologue:
Usp54
Mouse Description:
ubiquitin specific peptidase 54 Gene [Source:MGI Symbol;Acc:MGI:1926037]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa5853 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa11909 | Nonsense | Available for shipment | Available now |
sa22106 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa5853
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111558 | Nonsense | 339 | 1256 | 9 | 19 |
Genomic Location (Zv9):
Chromosome 12 (position 27803332)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 26140941 |
GRCz11 | 12 | 26232301 |
KASP Assay ID:
554-3907.1 (used for ordering genotyping assays)
KASP Sequence:
TCCGAACGATCATAGATTGGTCCCAAGTGGAAGGACGTGGYGTCGAGATG[T/A]ATAAAAGGCCACTACCAACCTCTATTGCTGCTGTATGCTGACCCGCGTGG
Long Flanking Sequence:
AGTGCGTGTAAATTTAATAATTCCATTCAACTCAAATCTTTTAAAGTGTTGCATTTTAAAAACTTTTCATTCAAATTCACAATCATAAAGTAAAAGTAAGTGTATTTTTTAACCCGAATTGCTTAGAGATTCCCTCAGATGCAGAATACAGTTACTGTACCTGTTGCTAACTGAAACATATTGCAAATAGCAGACTGTAAATGTGCCCGCTCTTGCTTTATCTGCCTGTCCTCCAGCTCTTCTACCGTGTGACGGATGAACGAGCTAAGCAGTCTGAGCTCTATCTTGTGGGCATGGTTTGCTACTACGGCAAGCATTACTCCACCTTCTTCTTCCAGACCAAGATACGCAAATGGATGTACTTTGATGACGCACATGTGAAGGAGGTAATGACACGTCTGCTTCTAGTGTTTCTAATAATGAACAGAGCCTGTGCTTAACCCTGTGTGTTCCGAACGATCATAGATTGGTCCCAAGTGGAAGGACGTGGTGTCGAGATG[T/A]ATAAAAGGCCACTACCAACCTCTATTGCTGCTGTATGCTGACCCGCGTGGCACACCCGTGTCTTCGCAAGATATGCTGGCAGCACAGCTGGACCTGCACCACAGCAGCAAGGCCGGCTACGACAGCGAAGACTCCGGTGAGATAAAGAGGAAGTGAGAGGTAGAGGGTTAAGCAAAACAAAAGAAAAACATACGTATAAGTTCTGATTCTGTGGAAACAAAGGAATGGTTCACTCGTCTTTCCTAGAGATGTGGAAAAGTATTGATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACATATTTTTTTCCTTGATAATATATTGATATTCTAGCTTCTAGTATCAGACTTTTTTTTTGTTATTTTATGGATTAAAAAATCCATAAATGTTTTTGTGCACAAATGAAGGTACAAGTAGGCGTGGCCAACAATTGCCATTTTGTTTGCACGTCATCGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11909
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111558 | Nonsense | 605 | 1256 | 11 | 19 |
Genomic Location (Zv9):
Chromosome 12 (position 27797766)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 26135375 |
GRCz11 | 12 | 26226735 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGGGTGCGGTGGAGCCGGGAGTTGAGCATGTGCCAAACCCACCACCTTTA[C/T]GAGGTGTAGAACAGCAGCCTCGGCTGATCCAGAGGATGGAGAGTGGCKAC
Long Flanking Sequence:
TCTGACTTTATTTTTTAGGGGAGGTTCTAGACCAGGCCACTCCTATTTGCACGCCAAGACCCTCTTCTACTGGCCATCTGCAGGACTATAAAGAGACTGTGAACATGATCCACAGCAGACCTCTCTCATCGTCCTCTAGCTCAGGCGTGGGGGGTTCGGAAGCTGGAGCGCGAGCGAGAGACTGGGAGGACGAGAGCACCAGCAGCGAGTCCAAATCCAGCTCCAGCGGAGGCCGCTATCGCCCCACTTGGAGACCCAGAAGAGAGGCCCTGAACATCGACAGCATCTTCAGCCGGGAAAGACATCGGCCTGTGGGATACACCACGCTTGGACCTTCCCCTCTGCCGGAAGACCCCATGTCACCAGTGCACGGTGAGCTGGTCTCAGTGGCTGTGGCAGAGGGATCAAACGGAGCAGCAGGAGAGACGGGGGATATGACCGATGGCTCTGGGGGTGCGGTGGAGCCGGGAGTTGAGCATGTGCCAAACCCACCACCTTTA[C/T]GAGGTGTAGAACAGCAGCCTCGGCTGATCCAGAGGATGGAGAGTGGCTACGAAAGTAGTGAGAGGAACAGCAACAGCCCGATCAGCATGGACATGCCCCTCAGCGACAACCCAAACTCGAGTGCTCACAGGTAACAATGCAACTCGCCAAACTGAACAAACCTAACTGAAGTCAATTCTCAAAGCCAGCAATTTACCAATAATAGAAGAAATTCTGTAATAAGAATTGATTCAGTGTTATACTGACTAATCAATTATTTCTAATAATTTTAGGCTTATTTTGCATGAACGTTTTCATTTTAATTGCTCACTAAATCAACCCCTCTCTCTATTTATAAATACTCTACAAAAGTTTGGGGTCAATAGGATTTTTAAATGTTTTAAAATAAGCTTCTCCTGCTCACCAAGGCTGCATTTTTAAAAAATACAGAACAAATTTAAACATTACAAATTGTTATTGCACTATAAAATAACTACTCAAAAGTAAGTTATAATATAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22106
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111558 | Essential Splice Site | 784 | 1256 | 14 | 19 |
Genomic Location (Zv9):
Chromosome 12 (position 27791760)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 26128569 |
GRCz11 | 12 | 26219929 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGCTGGGGACACAGCTACAGCCCTGGCGCTCTCCCACCACGCCGTGTG[T/G]AAGTAATTCTCACCTGCCTTTGCTTGCTATGCCCAACTCCTACGCTCTCT
Long Flanking Sequence:
TTTTGCAACCCTTCATTTAGTTCAATGTCTCTGGATCATTAAATTATAAAAACATTGAATTCTCACTCATATCACATATGGTAAATAGGCGCACCCTAAATAGAGCACCAATACTCAACTCATATGCCACATTTTTGATCGTACTGTAAATCAGTGTGTTCCCTAGTCGGTGTGCATGATGTGTGAGCATATGTGTCTAAATGTGTTGTGTGAGTTGTGTCGGTGGCAGTCAGTGGACTGTGTGCGCTTGTGTACAGTGTGTCTTTAAACATTGTGAGTGGCGTGTTTCGGGGAAGACACGGGGGCTCCTGTGAGCTGTGTTTGTGCGTGTGTGTGTGAGCGTCTTCTCAGAGGCCTGGCCTTGGTGTGTTAATTGCAGGGAAGGGGGGCAGTTTTGAGCACTGCCTGGCGGAGGCTGACTCTCTCATAGAGCAGTCGATGCGCCTGGAGCAGGCTGGGGACACAGCTACAGCCCTGGCGCTCTCCCACCACGCCGTGTG[T/G]AAGTAATTCTCACCTGCCTTTGCTTGCTATGCCCAACTCCTACGCTCTCTCTGCTCGGGTGACCTTAACTTACCCAAAAACATGCACTTTCTAGGTCCGTTTGGTAAGAACCCAGGTCCAAAACGCACAACACAAATCCACTAGTAATAATACCCCAACACTGCCTTCCCTTCCTGCAGCACCCTGTGTGTATTTGCTTCAGTTTGTCTCTCTGTGGGCCTGGACTCCTCGCTTATGTGTGTGTACCATGTTATTTGTGCTTATTTTTTCTTTATACTTTTTTAGGGATGCACAATATATCATATAGATTGATATTAGTAGAAAATAAATGTTTAATAGTGCATTTATAAATATATTTTTAATGTTTGAGTTTGCCTTTGTCATTGAAAAACACTCAATCAAATGTATTTATTAACAAAATTTTTTAATATTTTTATGCCTAAATTAAGTAAACTTAATATTCAAAACCTATGGCTATTTGTTAACTAAAGCTAAAACCA
Associated Phenotype:
Not determined