LOC100330288

Ensembl ID:
ENSDARG00000078962
Human Orthologues:
DUOXA1, DUOXA2
Human Descriptions:
dual oxidase maturation factor 1 [Source:HGNC Symbol;Acc:26507]
dual oxidase maturation factor 2 [Source:HGNC Symbol;Acc:32698]
Mouse Orthologues:
Duoxa1, Duoxa2
Mouse Descriptions:
dual oxidase maturation factor 1 Gene [Source:MGI Symbol;Acc:MGI:2384861]
dual oxidase maturation factor 2 Gene [Source:MGI Symbol;Acc:MGI:1914061]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3324 Essential Splice Site Mutation detected in F1 DNA During 2014
sa14365 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa3324
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 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110180 Essential Splice Site 49 329 1 7
Genomic Location:
Chromosome 25 (position 32933821)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCTGGCTGTCAGTTTCCTCTTCATTCTACCGGGAATACGTGGCAGATCG[G/A]TGAGTTGCRTCAAATAGTCTAGAAACAAGGCATCTGCAGATTTGTGTTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14365
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
ENSDART00000110180 Nonsense 82 329 3 7
Genomic Location:
Chromosome 25 (position 32930647)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TYTGCACTTYAGTGCTTAATTTCACTGGAGACTGGGCTGAAGCCAGAGTG[A/T]AGGCCAACACCACCTACAAATCCTTCAGCACGGCGGTGGTGTCAGCTGAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/qx5uhy5u