SNP rs8281486是一个位于染色体 ChrM:9348 的G到A的突变,导致第248位的Valine被替换为Isoleucine(p.V248I)。这个变异在A/J、BALB/cJ、BALB/cByJ、BPL/1J、CBA/J、C3H/HeJ、C3H/He、I/LnJ、LT/SvEi、NOD/LtJ、SEA/GnJ和STR/ort这些品种中被发现(来源:J:143901)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
various
Spontaneous
单点
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1

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

References Literature

Title
PMID
Journal
Year
IF
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