Log In|Sign Up
EN
The mutation is an A to T transversion at base pair 126,763,512 (v38) on chromosome 7, or base pair 4,114 in the GenBank genomic region NC_000073. The mutation corresponds to residue 681 in the mRNA sequence NM_011952 within exon 4 of 9 total exons. The mutation results in substitution of lysine (K) 221 to a premature stop codon. (J:221481)
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
