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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: R193Q
cDNA Position: 578 g→a (exon 2)
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Disease | Genetics | Frequency | Reference |
Neutral polymorphism | 0.6% of 450 individuals | (GeneSNPs, 2004) PubMed |
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Reference # rs3176162 | PubMed |