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This allele corresponds to a mutation in the third exon of the gene. A C-to-A substitution at coding tide position 2135 (c.2135C>A) results in an amino acid substitution that replaces proline with histidine at position 712 (p.P712H). (J:51522, J:53519, J:57938)
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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References Literature
Title
PMID
Journal
Year
IF
