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The variant rs224222 is in low LD with the three synonymous variants of exon 2 (r2 = 0.38) and with the tagging SNP rs224217 (r2 = 0.33) (Figure S1).
Exons and flanking intron regions of GCK, including tissue specific variants of exon 1, were amplified by PCR using previously reported primers (exons 1a, 2, 3, 4) [13] or chosen by the Primer 3 program (exons 1b, 1c, 5, 6, 7, 8, 9 and 10) [10].
Contrary to the association in the Belgian samples where the A allele of rs224222 was associated with UC susceptibility, the G allele is associated with UC in the Canadian samples, and no associations were observed with the three synonymous variants of exon 2 (Table 4).
No difference was identified between the wt and the two allelic variants of exon 13.
This arises from alternative splicing of two variants of exon 19, which encodes part of the first EF-hand motif.
This analysis confirmed the presence of exon 5 containing JMJD6 transcripts in humans and also the presence of two different variants of exon 4 in the human genome.
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A total of 166 BIC and UMD variants of exons 21, 22, 25, 26, and 27 were analyzed with Human Splicing Finder and NNSPLICE.
Skipped, mutually exclusive, truncated and other variants of exons will contribute to gaps in one of the sequences in the alignment.
Forty-one BIC variants of exons 19, 20, 23 and 24 were bioinformatically selected and generated by PCR-mutagenesis of the wild type minigenes.
We, therefore, proceeded to analyze all the reported variants of exons 19, 20, 23 and 24 from the BIC database (155 different DNA changes) with NNSplice and HSF.
Both splice variants of exons 14, 16 and 22a were present in human and mouse brain, at all ages and in all brain regions examined.
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