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T to C transition at base pair 66,859,182 (v38) on chromosome 18, or base pair 1,306 in the GenBank genomic regionNC_000084for theMc4rgene.The mutation corresponds to residue 1,306 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in a tyrosine to histidine substitution at position 287 (Y287H) in the MC4R protein. (J:274968)
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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References Literature
Title
PMID
Journal
Year
IF
