AMY2A
amylase alpha 2A
Summary
This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs539873586 | 1:104,160,076 | T/G | — | uncertain significance |
| rs1031007626 | 1:104,160,114 | T/C | — | uncertain significance |
| rs145483775 | 1:104,160,135 | C/T | — | uncertain significance |
| rs148399838 | 1:104,160,178 | T/C | — | uncertain significance |
| rs148507365 | 1:104,160,196 | G/A | — | uncertain significance |
| rs147709536 | 1:104,160,207 | C/G | — | uncertain significance |
| rs143462563 | 1:104,160,703 | C/A | — | benign |
| rs745355607 | 1:104,161,552 | C/A | — | uncertain significance |
| rs1340776792 | 1:104,161,576 | A/G | — | uncertain significance |
| rs45498894 | 1:104,161,577 | C/T | — | likely benign |
| rs200283230 | 1:104,162,189 | G/A | — | uncertain significance |
| rs372577342 | 1:104,162,200 | C/A | — | uncertain significance |
| rs1427277304 | 1:104,162,207 | A/G | — | uncertain significance |
| rs775489232 | 1:104,162,230 | G/A | — | uncertain significance |
| rs531383627 | 1:104,162,290 | A/G | — | uncertain significance |
| rs780444682 | 1:104,162,395 | A/T | — | uncertain significance |
| rs746422923 | 1:104,163,260 | G/A | — | uncertain significance |
| rs747694904 | 1:104,163,287 | G/A | — | uncertain significance |
| rs2524325212 | 1:104,163,290 | A/G | — | uncertain significance |
| rs1140401 | 1:104,166,496 | T/C | — | likely benign |
| rs1306702529 | 1:104,166,729 | T/A | — | uncertain significance |
| rs1274019006 | 1:104,166,735 | G/T | — | uncertain significance |
| rs2524330140 | 1:104,166,827 | T/G | — | uncertain significance |
| rs1653266229 | 1:104,166,828 | T/A | — | uncertain significance |
| rs2524330147 | 1:104,166,829 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.