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A to G transition at position 749 of the cDNA. This mutation is 15 nucleotides upstream of the exon6/exon7 splice junction and results in both an aspartic acid to glycine substitution at amino acid 207 of the encoded protein and the skipping of exon 6 in the encoded mRNA. (J:62098)
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
