NUP54

Ensembl ID:
ENSDARG00000045348
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 Estimate
sa23831 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa23831
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
C > T
Consequence:
Nonsense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACGGCTCCTCTAAGCGTGTGCCGGCGTCGACGCTCTACAACTTCCTGGAG[C/T]AGGTGAACATCAAAACACAACTGCAGCAGCTGAGCGTGATCATGACCGTC
Associated Phenotype:
Not determined

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