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A C to T transition at base pair 60,779,870 (v38) on chromosome 11, or base pair 2,346 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 2,346 (c.2346C>T) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in substitution of glutamine 615 for a premature stop codon (Q615*) in the SMCR8 protein (p.Q615*). (J:268243)
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
