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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R546C
cDNA Position: 1636 c→t (exon 9)
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Disease | Genetics | Frequency | Reference |
Neutral polymorphism | 1.1% of 450 individuals | (GeneSNPs, 2004) PubMed |
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Heterozygous with R628Q in one breast tumor | (Singh et al, 2009) PubMed |
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Reference # rs2307447 | PubMed |