Log In|Sign Up
EN
T to A transversion at base pair 34,503,413 (v38) on chromosome 11, or base pair 269,484 in the GenBank genomic region NC_000077 for the Dock2 gene. The mutation corresponds to residue 2,460 in the mRNA sequence NM_178666 within exon 24 of 52 total exons. The mutation results in a valine to glutamic acid substitution at position 793 (V793E) in the DOCK2 protein (J:274942)
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：
Show/Hide columns
| Phenotypes |
|---|
References Literature
Title
PMID
Journal
Year
IF
