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Allele : Ankrd16<rs251476964-G> ankyrin repeat domain 16; rs251476964 SNP allele with the G variant

Primary Identifier	MGI:6197557	Attribute String	No functional change
Gene	Ankrd16	Inheritance Mode	Dominant
Strain of Origin	multiple strains	Is Recombinase	false
Is Wild Type	false

molecularNote

The G SNP at this location results in normal splicing of exon 5 and the production of normal levels of the protein. This variant has been identified in CAST/Ei and CASA/RkJ. The functional consequence is the ability to suppress the phenotype associated with Aars^sti.

mutations:
Nucleotide substitutions

synonyms:
Mtsi<CAST>,
Mtsi<CAST>

earliestPublication:
Vo MN, et al. (2018) ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase. Nature 557(7706):510-515

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

Other

0 Carried By

0 Driven By

3 Publication categories

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