Table 2 List and properties of the 4 SNPs here analysed
rs # | Chr. 14 pos GRCh38/hg38 | Region/gene | Alleles (strand) | Amino acid substitution | Reason for selecting | TaqMan assay |
|---|---|---|---|---|---|---|
rs61984162 | 105588119 | IGHA2 | G > A( +) C > T (−) | CH1 115 P > S | Missense in IGHA2 and 100% predictive of the additional CH1 124 P > R | C__90305355_10 |
rs10137020 | 105625815 | IGHG4 | G > A( +) C > T (−) | CH1 105 N > N | Highly polymorphic. Predictor of HS1.2 length alleles | C__44804404_10 |
rs12896746 | 105700902 | 3'RR1—HS3 | A > G ( +) | Non coding | Strongest predictor of HS1.2 length alleles | C__31617367_30 |
rs12433324 | 105708181 | IGHA1 | A > G ( +) | Non coding | Significant sQTL for IGHG1, IGHG2 and IGHG3 in lung | C__26668621_10 |