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T to A transversion at base pair 64,429,694 (v38) on chromosome 6, or base pair 1,173,792 in the GenBank genomic region NC_000072 encoding Grid2. The mutation corresponds to residue 2,037 (c.2037T>A) in the NM_008167.3 mRNA sequence in exon 13 of 16 total exons. The mutation results in substitution of tyrosine 679 for a premature stop codon (p.Y679*) in the GluRdelta2 protein. (J:225267)
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
