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The mutation is a G to A transition at base pair 94,341,087 (Build 38) on Chromosome 15, or base pair 124,341 in the GenBank genomic region NC_000081. This site corresponds to nucleotide 2,510 in the mRNA sequence NM_177431 (isoform 1), within exon 16 of 39 total exons, and nucleotide 2,510 in the mRNA sequence NM_00164785 (isoform 2), within exon 16 of 28 total exons. The mutation results in a serine (S) to asparagine (N) substitution at amino acid position 750 (S750N) of both protein isoforms. (J:220067)
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
