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T to A transversion at base pair 71,685,545 (v38) on chromosome 8, or base pair 9,163 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,849 in the mRNA sequence NM_010589 within exon 19 of 25 total exons, and to residue 2,849 in the mRNA sequence NM_001190830 within exon 19 of 24 total exons. he mutation results in a valine (V) to aspartic acid (D) substitution at position 880 (V880D) in the JAK3 protein. (J:274939)
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
