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C to A transversion at base pair 103,471,232 (v38) on chromosome 15, or base pair 17,450 in the GenBank genomic region NC_000081 encoding Nckap1l. The mutation corresponds to residue 1,000 in the mRNA sequence NM_153505.4 (c.1000C>A) within exon 10 of 31 total exons. The mutation results in substitution of tyrosine 315 for a premature stop codon (p.Y315*) in the HEM1 protein. (J:272079)
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
