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A to T transversion at base pair 101,642,710 (v38) on chromosome 2, or base pair 6,823 in the GenBank genomic region NC_000068. The mutation corresponds to residue 2,211 (c.2211A>T) in the mRNA sequence NM_009019.2 within exon 2 of 2 total exons. The mutation results in an arginine to tryptophan substitution at position 696 (p.R696W) in the RAG1 protein. (J:272094)
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
