LOC572087

Ensembl ID:
ENSDARG00000073923
Human Orthologue:
ADCK2
Human Description:
aarF domain containing kinase 2 [Source:HGNC Symbol;Acc:19039]
Mouse Orthologue:
Adck2
Mouse Description:
aarF domain containing kinase 2 Gene [Source:MGI Symbol;Acc:MGI:1889336]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa8544 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa8544
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
ENSDART00000113032 Essential Splice Site 553 599 8 9
Genomic Location:
Chromosome 25 (position 2599283)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGTGGCCGAGCTTCYCTCWCAAGTTTTTGGTTTGCTGATCCATCAMAAG[G/A]TGAGGGCAACTAACACAAGCTAGAACATCATTAGCTGTTTGTAAAATTAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/nbm5u995