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The mutation is a T-to-C transition point mutation at coding nucleotide 4144. This alters codon 1382 from one encoding serine to one encoding proline. This is located at residue 1382 in the eighth transmembrane domain. (J:40664, J:43371, J:46349)
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
