LOC100005459

Ensembl ID:
ENSDARG00000077487
Human Orthologue:
SPSB3
Human Description:
splA/ryanodine receptor domain and SOCS box containing 3 [Source:HGNC Symbol;Acc:30629]
Mouse Orthologue:
Spsb3
Mouse Description:
splA/ryanodine receptor domain and SOCS box containing 3 Gene [Source:MGI Symbol;Acc:MGI:1891471]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa37959 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa37959
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 2017.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000108767 Nonsense 133 244 3 5
Genomic Location (Zv9):
Chromosome 24 (position 40769945)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 39301957
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATCCTCCTCTGTGTCTCTGAGCTGCTGGAACCGGACGGTGAGTTTCCACT[C/A]GGAGTATAGCTGCGGGACGGCCGCCATCAGGGGCTCCAAGGCCCTCAGCG
Associated Phenotype:
Not determined

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