LOC558881

Ensembl ID:
ENSDARG00000074564
Human Orthologue:
FAM57B
Human Description:
family with sequence similarity 57, member B [Source:HGNC Symbol;Acc:25295]
Mouse Orthologue:
Fam57b
Mouse Description:
family with sequence similarity 57, member B Gene [Source:MGI Symbol;Acc:MGI:1916202]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa35187 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa35187
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129668 Essential Splice Site 177 295 5 6
Genomic Location (Zv9):
Chromosome 12 (position 4333166)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 3706271
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTCTCTCTCTCTTCCTCTTTGTCCTCTCTCCTCCTTTCTTACTGTAAA[G/T]TACAAGCAACAGCACACACTTCTTCACAAAGTGAATGGAGCTGTAATGCT
Associated Phenotype:
Not determined

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