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EN
The mutation is a C to T transition at base pair 109,020,954 (v38) on chromosome 7, or base pair 10,075 in the GenBank genomic region NC_000073. The mutation corresponds to residue 399 in the mRNA sequence NM_021885 within exon 3 of 12 total exons. The mutation converts arginine (R) 60 to a premature stop codon (R60*). (J:221485)
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
