ZMP

USP54 (1 of 2)

Ensembl ID:

ENSDARG00000077749

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
sa11909	Nonsense	Available for shipment	Available now
sa22106	Essential Splice Site	Available for shipment	Available now

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.

Availability:

Order Allele From ZIRC
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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.

Availability:

Order Allele From ZIRC

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