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EN
SNP rs32756904 contains the T variant in exon 14 creating a novel splice donor site. The resulting transcript has an amino acid substitution at position 619 (p.R619S) and is miss-splicing eliminating 5 bp at the end of the exon 14 coding sequence. This SNP is found in 129S1/SvImJ, C3H/HeJ, DBA/2J, KK/HlJ mice. (J:33253, J:133936)
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
