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The mutation has been identified as an A to G transition at nucleotide position 1847 of the mRNA sequence (Ensembl Transcript Accession ID: ENSMUST00000102534), resulting in replacement of arginine by glycine at amino acid position 518 of the protein (R518G). (J:104190)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
