usp44

Ensembl ID:
ENSDARG00000089861
ZFIN ID:
ZDB-GENE-040426-774
Description:
Ubiquitin carboxyl-terminal hydrolase 44 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZUM8]
Human Orthologue:
USP44
Human Description:
ubiquitin specific peptidase 44 [Source:HGNC Symbol;Acc:20064]
Mouse Orthologue:
Usp44
Mouse Description:
ubiquitin specific peptidase 44 Gene [Source:MGI Symbol;Acc:MGI:3045318]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12003 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12003
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124514 Nonsense 621 695 6 7
Genomic Location:
Chromosome 4 (position 25113341)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
YGAACATGGAGCCGTAYTGCTGCAAAGACTCCGGCAACTTACCCCATCCT[C/T]AACACTTYCTCTACCAACTTTCTGCTGTCGTCATGCATCACGGGAAGGGW
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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* quick link - http://q.sanger.ac.uk/w3v94die