Log In|Sign Up
EN
The mutation is an A to G transition at base pair 78,564,968 (v38) on chromosome 15, or base pair 7,816 in the GenBank genomic region NC_000081. The mutation corresponds to residue 481 in the mRNA sequence NM_009008 within exon 5 of 7 total exons. The mutation results in a threonine (T) to alanine (A) substitution at position 115 (T115A). (J:221478)
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
