KLHL33 (1 of 3)

Ensembl ID:
ENSDARG00000055142
Description:
kelch-like 33 (Drosophila) [Source:HGNC Symbol;Acc:31952]
Human Orthologue:
KLHL33
Human Description:
kelch-like 33 (Drosophila) [Source:HGNC Symbol;Acc:31952]
Mouse Orthologue:
AC027184.1
Mouse Description:
kelch-like 33 [Source:RefSeq peptide;Acc:NP_001160123]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa10616 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10616
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000097953 Nonsense 513 774 3 5
Genomic Location:
Chromosome 7 (position 4477711)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TYGTGAAGCAGATGGAGTGGAGACTGCTGGGRGAAATGCCAGATCAGGCC[A/T]GATTCAGACAYGSCGTTGGRGTCCTTAATGGACAACTRTATATCGCTGGA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/zq7jtrxo