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The mutation is a T to A transversion at base pair 99,145,277 (v38) on chromosome 11, or base pair 9,801 in the GenBank genomic region NC_000077. The mutation corresponds to residue 897 in the mRNA sequence NM_007719 within exon 3 of 3 total exons. The mutation results in an isoleucine (L) to lysine (K) substitution at position 273 (I273K). (J:221477)
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
