Entrez Gene ID | 4121 |
---|---|
Official Gene Symbol | MAN1A1 (GeneCards) |
Full name | mannosidase alpha class 1A member 1 |
Location | 6q22.31 |
Other ids | Vega : OTTHUMG00000015472 MIM : 604344 HGNC : HGNC:6821 Ensembl : ENSG00000111885 |
Other names | MAN9, HUMM3, HUMM9 |
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] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
8998 | 4121 | MAN1A1 | 6 | 119592265 | 119592265 | Asymptomatic | HiSeq X Ten |
9105 | 4121 | MAN1A1 | 6 | 119534799 | 119534799 | Asymptomatic | HiSeq X Ten |
9315 | 4121 | MAN1A1 | 6 | 119644368 | 119644368 | Asymptomatic | HiSeq X Ten |
26104 | 4121 | MAN1A1 | 6 | 119757404 | 119757404 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |