GYPA
glycophorin A (MNS blood group)
Summary
Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11100830 | 4:145,033,643 | A/C | — | — |
| rs139529237 | 4:145,035,845 | G/T | — | uncertain significance |
| rs149908820 | 4:145,035,851 | C/T | missense variant | — |
| rs2546223177 | 4:145,035,913 | G/A | — | uncertain significance |
| rs1730682576 | 4:145,035,914 | G/A | — | likely benign |
| rs772099477 | 4:145,038,017 | C/A | — | uncertain significance |
| rs572116498 | 4:145,038,021 | G/T | — | uncertain significance |
| rs146754148 | 4:145,038,027 | C/T | — | uncertain significance |
| rs6537255 | 4:145,038,627 | T/C | intron variant | — |
| rs752168013 | 4:145,039,887 | G/A | — | likely benign |
| rs12505498 | 4:145,040,219 | C/T | intron variant | — |
| rs1800582 | 4:145,040,839 | C/T | missense variant | pathogenic |
| rs1176709985 | 4:145,040,866 | T/C | — | uncertain significance |
| rs140202377 | 4:145,040,902 | G/T | — | uncertain significance |
| rs62334652 | 4:145,040,999 | T/C | regulatory region variant | — |
| rs1279673456 | 4:145,041,699 | A/G | — | likely benign |
| rs7658293 | 4:145,041,707 | C/G | missense variant | — |
| rs7687256 | 4:145,041,708 | T/C | missense variant | — |
| rs753693249 | 4:145,041,711 | G/T | — | uncertain significance |
| rs7682260 | 4:145,041,720 | A/G | missense variant | — |
| rs7693383 | 4:145,042,520 | T/C | intron variant | — |
| rs4835578 | 4:145,043,392 | C/T | intron variant | — |
| rs4565031 | 4:145,044,759 | G/A | intron variant | — |
| rs181401684 | 4:145,045,117 | G/A | intron variant | — |
| rs4269129 | 4:145,047,380 | A/G | coding sequence variant | — |
| rs372519407 | 4:145,049,387 | T/C | — | — |
| rs11725211 | 4:145,052,106 | C/G | downstream gene variant | — |
| rs11723763 | 4:145,058,296 | G/T | intron variant | — |
| rs36211745 | 4:145,062,271 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.