AMY1A
amylase alpha 1A
Summary
Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201288184 | 1:104,203,023 | C/T | — | likely benign |
| rs138172355 | 1:104,203,053 | A/G | — | uncertain significance |
| rs138704923 | 1:104,203,066 | C/T | — | likely benign |
| rs755582791 | 1:104,203,067 | G/A | — | uncertain significance |
| rs2524346086 | 1:104,203,215 | G/A | — | uncertain significance |
| rs1310098158 | 1:104,203,233 | C/T | — | uncertain significance |
| rs747319728 | 1:104,203,270 | G/A | — | uncertain significance |
| rs370981115 | 1:104,204,780 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.