LOC799983

Ensembl ID:
ENSDARG00000091020
Human Orthologue:
FAM83A
Human Description:
family with sequence similarity 83, member A [Source:HGNC Symbol;Acc:28210]
Mouse Orthologue:
Fam83a
Mouse Description:
family with sequence similarity 83, member A Gene [Source:MGI Symbol;Acc:MGI:2447773]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15710 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa15710
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000128448 Essential Splice Site 170 426 1 4
Genomic Location:
Chromosome 16 (position 47589943)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CRTCCTCCATGAAAGACRTGCTGCGGGAGCTCATCAGGCAAGCAACAAAA[G/A]TAAGAACCTTAAATTTCATGGAGCCTTTTTAAGACATTATTACTTTATTT
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/2ox722d4