ZMP
NUP54
Ensembl ID:
Description:
nucleoporin 54kDa [Source:HGNC Symbol;Acc:17359]
Human Orthologue:
NUP54
Human Description:
nucleoporin 54kDa [Source:HGNC Symbol;Acc:17359]
Mouse Orthologue:
Nup54
Mouse Description:
nucleoporin 54 Gene [Source:MGI Symbol;Acc:MGI:1920460]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa23831 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa23831
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000066692 | Nonsense | 307 | 351 | 9 | 11 |
Genomic Location (Zv9):
Chromosome 21 (position 257366)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 196957 |
| GRCz11 | 21 | 217963 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGGCTCCTCTAAGCGTGTGCCGGCGTCGACGCTCTACAACTTCCTGGAG[C/T]AGGTGAACATCAAAACACAACTGCAGCAGCTGAGCGTGATCATGACCGTC
Long Flanking Sequence:
GTAGAGCTCTTGAAGAGCGGGTTGGGCTGTAGCGAGACAGAAGCTGGGTCAGATGAACAGGAGCTGGGTTATTCACAGATTTATAGGGAAGCAGCAATATCTGATGATCAATACTGGACTGAACAGCAGCCGGTGCAGCAGGAGAACACGCGGGGATGAGGACATGTCTGCTGCAGCTTCACTGACTGAAGCTTATTAATAGAGGACGCTGGAGCAGCAGAGCCTTACAGTCATCTCATCTAGAGCTCATACAAGCATCAGCTAGCTCTGCTGAGCCTGAGAGCAGGAGTACAGTAGAGCCTCACACTGACCCTACAGCCCCCATACTGCACTGCCTGACCTCTGAACCCTGACACACTGTACTGTAGAGCGCTGTTCATCTGTGTGTGTGTGTGTGTGTGTGCACGTGCAGGACGGAGGTGATCATCTATGTGGTGGAGCGCTCCCCGAACGGCTCCTCTAAGCGTGTGCCGGCGTCGACGCTCTACAACTTCCTGGAG[C/T]AGGTGAACATCAAAACACAACTGCAGCAGCTGAGCGTGATCATGACCGTCAGCCGCACCGCCCTGAGCCCAGCACAGCTCAAACAACTGCTGCAGAACCCCCCCGCAGGTACACACACACACTGACTCCAGCACAGCCACACACACTTGTGATGCACATTGCTGATGAATAACAGACAGCTAACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCAGGTGTGGACCCCATCATCTGGGAACAGGCTAAAGTGGACAATCCAGACCCAGAGAAGTGTGTGCTGATTCACTCACTCATGCCTGATGCTGCTGCTCTGATCTTCATCCTCTTCCTCTTCCTCCTCTTCAGGCTGATTCCGGTGCCGATGGTGGGCTTCCGTGAGCTGCTGCGCCGGCTGAAGATCCAGGAGCAGATGACCAAACAGCACCAGACACGAGTGGACGTAAGACAGAGAGTGAGAGTGTGTGTGTGTGTGTGTTTTACCACTGATG
Associated Phenotype:
Not determined