Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | identification of three novel single nucleotide polymorphisms, 147C>T in exon 2 (silent), 602G>C in exon 3 (Arg201Pro), and 1134C>T in exon 4 (silent), in the gene of bile acid CoA: amino acid N-acyltransferase. The allelic frequencies are 0.005 for 147C>T, 0.095 for 602G>C, and 0.015 for 1134C>T. The two known SNPs, 59G>A (Arg20Gln, rs1572983) and UTR1513G>A (rs2229594), are detected at a frequency of 0.500 and 0.425, respectively. In the haplotype analysis for the 59G>A and 602G>C polymorphisms, the allelic frequency of 59G-602G, 59G-602C, 59A-602G and 59A-602C is 0.405, 0.095, 0.500 and 0.000, respectively. The allelic frequency of the nonsynonymous SNP 602G>C is 0.194 in a Caucasian population | ? | - |
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Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
Japanese individuals | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | identification of three novel single nucleotide polymorphisms, 147C>T in exon 2 (silent), 602G>C in exon 3 (Arg201Pro), and 1134C>T in exon 4 (silent), in the gene of bile acid CoA: amino acid N-acyltransferase. The allelic frequencies are 0.005 for 147C>T, 0.095 for 602G>C, and 0.015 for 1134C>T. The two known SNPs, 59G>A (Arg20Gln, rs1572983) and UTR1513G>A (rs2229594), are detected at a frequency of 0.500 and 0.425, respectively. In the haplotype analysis for the 59G>A and 602G>C polymorphisms, the allelic frequency of 59G-602G, 59G-602C, 59A-602G and 59A-602C is 0.405, 0.095, 0.500 and 0.000, respectively. The allelic frequency of the nonsynonymous SNP 602G>C is 0.194 in a Caucasian population | Homo sapiens | ? | - |
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Synonyms | Comment | Organism |
---|---|---|
BAAT | - |
Homo sapiens |
bile acid CoA: amino acid N-acyltransferase | - |
Homo sapiens |