FAM8A1 (3 of 3)

Ensembl ID:
ENSDARG00000017111
Description:
family with sequence similarity 8, member A1 [Source:HGNC Symbol;Acc:16372]
Human Orthologue:
FAM8A1
Human Description:
family with sequence similarity 8, member A1 [Source:HGNC Symbol;Acc:16372]
Mouse Orthologue:
C78339
Mouse Description:
expressed sequence C78339 Gene [Source:MGI Symbol;Acc:MGI:2145496]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa36871 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa36871
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022667 Nonsense 87 290 1 5
Genomic Location (Zv9):
Chromosome 19 (position 33447192)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 32614999
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGCATCCGTGTATCCCACAACGCCGGCGGACATCGCCGCCTGGTACAAC[C/T]AAATGAGCAGCCCGGGAGCCATCCGTCCAGCAGACACCGCCACATCCAGC
Associated Phenotype:
Not determined

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