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EN
ENU-induced C to A transversion at base pair 34,215,940 (v38) on chromosome 17, or base pair 11,462 in the GenBank genomic region NC_000083 encoding Tap2. The mutation corresponds to residue 2,109 in the mRNA sequence NM_011530 within exon 12 of 12 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 652 (D652E) in the TAP2 protein. (J:272847)
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
