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A to C transversion at base pair 34,262,445 (v38) on chromosome 11, or base pair 521,465 in the GenBank genomic regionNC_000077forDock2.The mutation corresponds to residue 3,777 in the mRNA sequence NM_178666 within exon 37 of 52 total exons. The mutation results in an aspartic acid to alanine substitution at position 1,232 (D1232A) in the DOCK2 protein. (J:274971)
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
