Log In|Sign Up
EN
The mutation is a G to T transversion at base pair 95,413,081 (v38) on chromosome 10, or base pair 4,173 in the GenBank genomic region NC_000076. The mutation corresponds to residue 631 in the mRNA sequence NM_145223 within exon 3 of 3 total exons. The mutated nucleotide converts glutamine 57 to a stop codon. (J:221476)
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
