MAN1A1
mannosidase alpha class 1A member 1
Summary
This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs35544784 | 6:119,500,995 | T/C | — | benign |
| rs150485975 | 6:119,501,004 | C/G | — | uncertain significance |
| rs920745580 | 6:119,501,069 | A/G | — | uncertain significance |
| rs536281061 | 6:119,501,085 | C/T | — | uncertain significance |
| rs768317868 | 6:119,501,532 | G/A | — | uncertain significance |
| rs2482134595 | 6:119,509,598 | T/A | — | uncertain significance |
| rs747775527 | 6:119,509,661 | A/T | — | uncertain significance |
| rs116358551 | 6:119,510,839 | A/G | — | benign |
| rs773559572 | 6:119,510,859 | G/C | — | uncertain significance |
| rs2482139359 | 6:119,510,975 | A/G | — | uncertain significance |
| rs780194840 | 6:119,511,005 | G/C | — | uncertain significance |
| rs754857944 | 6:119,511,012 | C/T | — | uncertain significance |
| rs375324542 | 6:119,511,045 | T/C | — | uncertain significance |
| rs17442112 | 6:119,513,882 | C/G | intron variant | — |
| rs115216586 | 6:119,514,934 | T/C | — | benign |
| rs772244188 | 6:119,514,976 | A/G | — | uncertain significance |
| rs140938681 | 6:119,519,382 | C/T | — | — |
| rs2482169532 | 6:119,522,433 | C/T | — | uncertain significance |
| rs76158833 | 6:119,538,460 | G/T | intron variant | — |
| rs755609549 | 6:119,569,488 | A/G | — | uncertain significance |
| rs375353033 | 6:119,611,871 | C/T | — | uncertain significance |
| rs1054850373 | 6:119,623,168 | A/C | — | uncertain significance |
| rs1246499756 | 6:119,623,178 | A/C | — | uncertain significance |
| rs143029484 | 6:119,669,683 | T/C | — | uncertain significance |
| rs1562252334 | 6:119,669,915 | C/T | — | uncertain significance |
| rs1268133792 | 6:119,669,923 | C/T | — | uncertain significance |
| rs1311117813 | 6:119,669,951 | C/T | — | uncertain significance |
| rs774702832 | 6:119,669,996 | C/T | — | uncertain significance |
| rs2482547288 | 6:119,670,011 | A/C | — | uncertain significance |
| rs538710612 | 6:119,670,020 | C/G | — | uncertain significance |
| rs2482547853 | 6:119,670,104 | C/G | — | uncertain significance |
| rs765310918 | 6:119,670,115 | G/A | — | uncertain significance |
| rs750352489 | 6:119,670,116 | T/A | — | uncertain significance |
| rs776396837 | 6:119,670,191 | C/T | — | uncertain significance |
| rs75964071 | 6:119,671,617 | C/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.