Table 5.

Intronic SNPs present in all samples with R2 haplotype

PositionSNPLocationReference SNP no.*
25 282 654 A>G Intron 1 rs3866916 
25 285 089 G>A Intron 2 rs675072 
25 287 909 C>G Intron 2 rs28718098 
25 295 072 G>A Intron 3 rs372986392 
25 295 354 C>T Intron 3 rs2904840 
25 295 489 C>T Intron 3 rs190056379 
25 295 708 G>A Intron 3 rs182346769 
25 295 731 A>G Intron 3 rs201512625 
25 295 739 G>A Intron 3 rs200682399 
25 295 753 A>G Intron 3 rs143670081 
25 298 980 T>C Intron 3 rs2904843 
25 300 575 C>G Intron 3 rs2986167 
25 305 898 A>G Intron 6 rs12126031 
25 307 714 G>A Intron 7 rs2257611 
25 308 845 G>C Intron 7 rs2478025 
25 311 722 T>A Intron 7 rs796579065 
25 316 269 A>G Intron 7 rs2427767 
25 320 442 T>G Intron 8 rs3927482 
25 321 858 T>C Intron 8 rs28669938 
25 323 393 C>T Intron 9 rs77160738 
25 323 618 G>C Intron 9 rs201304363 
25 323 713 G>C Intron 9 rs202154122 
25 327 668 A>G Intron 9 NA 
PositionSNPLocationReference SNP no.*
25 282 654 A>G Intron 1 rs3866916 
25 285 089 G>A Intron 2 rs675072 
25 287 909 C>G Intron 2 rs28718098 
25 295 072 G>A Intron 3 rs372986392 
25 295 354 C>T Intron 3 rs2904840 
25 295 489 C>T Intron 3 rs190056379 
25 295 708 G>A Intron 3 rs182346769 
25 295 731 A>G Intron 3 rs201512625 
25 295 739 G>A Intron 3 rs200682399 
25 295 753 A>G Intron 3 rs143670081 
25 298 980 T>C Intron 3 rs2904843 
25 300 575 C>G Intron 3 rs2986167 
25 305 898 A>G Intron 6 rs12126031 
25 307 714 G>A Intron 7 rs2257611 
25 308 845 G>C Intron 7 rs2478025 
25 311 722 T>A Intron 7 rs796579065 
25 316 269 A>G Intron 7 rs2427767 
25 320 442 T>G Intron 8 rs3927482 
25 321 858 T>C Intron 8 rs28669938 
25 323 393 C>T Intron 9 rs77160738 
25 323 618 G>C Intron 9 rs201304363 
25 323 713 G>C Intron 9 rs202154122 
25 327 668 A>G Intron 9 NA 

Intronic SNPs (hg38) and their reference SNP number were present in R2r, R2R2, R1R2, and R2RZ samples. Intronic SNPs were present as homozygous in all 9 weak D type 2 R2r samples, all 6 R2r samples and all 7 R2R2 samples, and in 3 of the 6 R1R2 samples that tested as hemizygous for the RHD gene by dPCR. These SNPs were also present as heterozygous SNPs in all 6 homozygous R1R2 samples and in the R2RZ sample.

*

From the database of SNPs.44 

Not applicable. Not found in the database of SNPs.44 

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