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. Author manuscript; available in PMC: 2022 May 16.
Published in final edited form as: Vox Sang. 2020 Sep 30;116(2):141–154. doi: 10.1111/vox.12999

Table 2.

Genomic characteristics of the 12 genes.

Gene Chromosome location Genomic size GenBank number Exons Length of cDNA (nucleotides) Length of coding sequence (CDS) (nucleotides)
ABCC1 16p13.11 200498 bp NG_028268.1 31 6504 4596
ABCC4 13q32.1 288618 bp NG_050651.1 31 5871 3978
ABCC5 3q27.1 98027 bp NG_047115.1 30 5790 4314
ABCG2 * 4q22.1 68596 bp NG_032067.2 16 4206 1968
SLC16A1 1p13.2 44507 bp NG_015880.2   5 3927 1503
SLC19A1 21q22.3 29905 bp NG_028278.2   6 4982 1776
SLC29A1 6p21.1 10648 bp NG_042893.1 14 2201 1497
CYP4F3 19p13.12 19864 bp NG_007964.1 13 5053 1563
CFTR 7q31.2 188703 bp NG_016465.4 27 6132 4443
FLOT1 6p21.33 15143 bp NC_000006.12 13 1866 1284
ATP7A Xq21.1 139740 bp NG_013224.2 23 8492 4503
EPHX1 1q42.12 35489 bp NG_009776.1   9 1847 1368
*

ABCG2 - Junior blood group system (JR; ISBT 032) [35, 36].

SLC29A1 - Augustine blood group system (AUG; ISBT 036) [37].

For a list of variants in the 12 genes and associated clinical outcomes, see Table S1).