GMPPB
GDP-mannose pyrophosphorylase B
Summary
This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
Known Variants306 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs936866371 | 3:49,759,186 | C/T | — | likely benign |
| rs1553691662 | 3:49,759,191 | G/C | — | uncertain significance |
| rs150478395 | 3:49,759,197 | A/T | — | likely benign |
| rs771861177 | 3:49,759,198 | C/T | — | conflicting classifications of pathogenicity |
| rs143218268 | 3:49,759,203 | C/T | — | likely benign |
| rs2544751351 | 3:49,759,210 | A/G | — | uncertain significance |
| rs2544751355 | 3:49,759,211 | C/T | — | uncertain significance |
| rs746616705 | 3:49,759,218 | G/T | — | likely benign |
| rs184127567 | 3:49,759,220 | C/T | — | conflicting classifications of pathogenicity |
| rs2544751402 | 3:49,759,222 | A/G | — | uncertain significance |
| rs776117691 | 3:49,759,228 | T/C | — | uncertain significance |
| rs1472157050 | 3:49,759,231 | T/G | — | uncertain significance |
| rs1254424893 | 3:49,759,232 | G/A | — | uncertain significance |
| rs1409825474 | 3:49,759,241 | C/G | — | uncertain significance |
| rs899906522 | 3:49,759,242 | G/A | — | likely benign |
| rs1064796834 | 3:49,759,250 | C/T | — | uncertain significance |
| rs147074020 | 3:49,759,251 | G/A | — | likely benign |
| rs753014812 | 3:49,759,252 | T/C | — | uncertain significance |
| rs756344903 | 3:49,759,254 | G/A | — | likely benign |
| rs1553691683 | 3:49,759,259 | A/G | — | uncertain significance |
| rs2080415058 | 3:49,759,264 | T/A | — | uncertain significance |
| rs397509422 | 3:49,759,268 | C/T | missense variant | pathogenic |
| rs2080415182 | 3:49,759,271 | T/A | — | uncertain significance |
| rs1370972275 | 3:49,759,279 | A/G | — | uncertain significance |
| rs199922550 | 3:49,759,280 | C/T | missense variant | pathogenic |
| rs541447888 | 3:49,759,281 | G/A | — | likely benign |
| rs2108210451 | 3:49,759,284 | C/T | — | likely benign |
| rs1356812347 | 3:49,759,286 | C/T | — | uncertain significance |
| rs779167148 | 3:49,759,287 | A/G | — | likely benign |
| rs2544751692 | 3:49,759,296 | T/C | — | likely benign |
| rs758284245 | 3:49,759,301 | C/T | — | uncertain significance |
| rs781114909 | 3:49,759,302 | G/C | — | uncertain significance |
| rs768327938 | 3:49,759,312 | C/T | — | uncertain significance |
| rs780867515 | 3:49,759,313 | G/A | — | likely pathogenic |
| rs747818187 | 3:49,759,314 | T/C | — | likely benign |
| rs559784211 | 3:49,759,315 | A/G | — | conflicting classifications of pathogenicity |
| rs372512288 | 3:49,759,318 | T/C | — | uncertain significance |
| rs969160309 | 3:49,759,328 | G/A | — | conflicting classifications of pathogenicity |
| rs747845961 | 3:49,759,330 | T/C | — | conflicting classifications of pathogenicity |
| rs2544751806 | 3:49,759,331 | A/G | — | likely benign |
| rs2544751812 | 3:49,759,333 | G/A | — | likely benign |
| rs764575305 | 3:49,759,338 | G/T | — | uncertain significance |
| rs533341318 | 3:49,759,341 | A/G | — | likely benign |
| rs1229132200 | 3:49,759,354 | C/G | — | uncertain significance |
| rs71324991 | 3:49,759,370 | C/T | — | uncertain significance |
| rs1255496598 | 3:49,759,372 | C/T | — | uncertain significance |
| rs1212614251 | 3:49,759,378 | A/C | — | likely benign |
| rs2080418581 | 3:49,759,379 | G/C | — | likely benign |
| rs2108210687 | 3:49,759,380 | C/A | — | likely benign |
| rs747728635 | 3:49,759,382 | C/T | — | uncertain significance |
| rs55816606 | 3:49,759,389 | C/T | — | likely benign |
| rs973900671 | 3:49,759,391 | G/T | — | conflicting classifications of pathogenicity |
| rs1171978748 | 3:49,759,393 | C/T | — | uncertain significance |
| rs886039910 | 3:49,759,397 | C/T | missense variant | pathogenic |
| rs2544752296 | 3:49,759,398 | C/T | — | pathogenic |
| rs1436735276 | 3:49,759,401 | C/G | — | uncertain significance |
| rs1343235792 | 3:49,759,409 | C/A | — | uncertain significance |
| rs147714661 | 3:49,759,410 | G/A | — | likely benign |
| rs775910135 | 3:49,759,411 | C/T | — | uncertain significance |
| rs144421130 | 3:49,759,412 | G/A | — | uncertain significance |
| rs2108210776 | 3:49,759,413 | G/A | — | likely benign |
| rs769076864 | 3:49,759,414 | C/G | — | uncertain significance |
| rs2080419735 | 3:49,759,416 | G/A | — | likely benign |
| rs371188899 | 3:49,759,418 | G/A | — | conflicting classifications of pathogenicity |
| rs2544752420 | 3:49,759,420 | C/A | — | uncertain significance |
| rs2080420020 | 3:49,759,422 | G/T | — | likely benign |
| rs750488885 | 3:49,759,426 | A/C | — | uncertain significance |
| rs1186936513 | 3:49,759,431 | G/C | — | uncertain significance |
| rs762995747 | 3:49,759,439 | C/T | — | uncertain significance |
| rs2080420731 | 3:49,759,442 | G/A | — | uncertain significance |
| rs2108210840 | 3:49,759,446 | G/C | — | likely benign |
| rs766498097 | 3:49,759,456 | C/T | — | uncertain significance |
| rs144040971 | 3:49,759,462 | C/T | — | uncertain significance |
| rs748809549 | 3:49,759,471 | C/T | — | uncertain significance |
| rs756682220 | 3:49,759,472 | G/A | — | uncertain significance |
| rs778490288 | 3:49,759,479 | C/T | — | likely benign |
| rs139668958 | 3:49,759,480 | G/A | — | uncertain significance |
| rs769346834 | 3:49,759,486 | C/G | — | uncertain significance |
| rs1230808770 | 3:49,759,487 | G/A | — | conflicting classifications of pathogenicity |
| rs202160208 | 3:49,759,489 | C/T | missense variant | pathogenic |
| rs142908436 | 3:49,759,490 | G/T | synonymous variant | uncertain significance |
| rs2108210916 | 3:49,759,495 | C/A | — | uncertain significance |
| rs2108210918 | 3:49,759,499 | C/T | — | uncertain significance |
| rs748848527 | 3:49,759,508 | C/T | — | uncertain significance |
| rs763668055 | 3:49,759,509 | G/C | — | likely benign |
| rs1488679302 | 3:49,759,517 | C/T | — | uncertain significance |
| rs763262592 | 3:49,759,518 | G/A | — | likely benign |
| rs200706198 | 3:49,759,521 | A/G | — | likely benign |
| rs766298888 | 3:49,759,522 | G/A | — | likely pathogenic |
| rs774498980 | 3:49,759,530 | G/A | — | likely benign |
| rs759453935 | 3:49,759,536 | A/G | — | likely benign |
| rs370840899 | 3:49,759,537 | T/C | — | uncertain significance |
| rs1172092305 | 3:49,759,543 | C/T | — | uncertain significance |
| rs2544752758 | 3:49,759,544 | C/A | — | uncertain significance |
| rs1559696635 | 3:49,759,546 | A/G | — | likely pathogenic |
| rs752457623 | 3:49,759,548 | G/A | — | likely benign |
| rs1559696652 | 3:49,759,557 | C/G | — | uncertain significance |
| rs1304295361 | 3:49,759,558 | T/C | — | uncertain significance |
| rs763971677 | 3:49,759,559 | G/A | — | pathogenic |
| rs753366203 | 3:49,759,562 | C/T | — | uncertain significance |
Showing 100 of 306 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.