AMBP
alpha-1-microglobulin/bikunin precursor
Summary
This gene encodes a complex glycoprotein secreted in plasma. The precursor is proteolytically processed into distinct functioning proteins: alpha-1-microglobulin, which belongs to the superfamily of lipocalin transport proteins and may play a role in the regulation of inflammatory processes, and bikunin, which is a urinary trypsin inhibitor belonging to the superfamily of Kunitz-type protease inhibitors and plays an important role in many physiological and pathological processes. This gene is located on chromosome 9 in a cluster of lipocalin genes. [provided by RefSeq, Jul 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80057939 | 9:116,822,510 | G/T | — | — |
| rs771742302 | 9:116,822,550 | C/T | — | uncertain significance |
| rs150141433 | 9:116,823,210 | C/T | — | uncertain significance |
| rs758356597 | 9:116,823,231 | C/G | — | uncertain significance |
| rs2490279824 | 9:116,823,254 | C/A | — | uncertain significance |
| rs2490279848 | 9:116,823,267 | C/T | — | uncertain significance |
| rs779113207 | 9:116,823,348 | G/A | — | uncertain significance |
| rs1278542148 | 9:116,823,351 | C/G | — | uncertain significance |
| rs747531845 | 9:116,823,369 | T/G | — | uncertain significance |
| rs530034584 | 9:116,823,378 | G/A | — | uncertain significance |
| rs1359367305 | 9:116,823,731 | C/G | — | uncertain significance |
| rs779164504 | 9:116,823,755 | C/T | — | likely benign |
| rs530605708 | 9:116,823,773 | C/T | — | uncertain significance |
| rs763223485 | 9:116,823,851 | A/C | — | likely benign |
| rs147941577 | 9:116,831,989 | A/G | missense variant | — |
| rs1198312314 | 9:116,831,992 | G/A | — | uncertain significance |
| rs111706984 | 9:116,835,199 | A/G | — | benign |
| rs142095902 | 9:116,835,207 | C/T | — | uncertain significance |
| rs756372752 | 9:116,835,208 | G/C | — | uncertain significance |
| rs553451289 | 9:116,835,216 | A/G | — | uncertain significance |
| rs369188218 | 9:116,836,345 | T/C | — | uncertain significance |
| rs769675878 | 9:116,836,348 | T/C | — | likely benign |
| rs2490292784 | 9:116,836,349 | G/A | — | uncertain significance |
| rs201342994 | 9:116,836,408 | T/C | — | uncertain significance |
| rs759865965 | 9:116,838,884 | C/T | — | likely benign |
| rs141383606 | 9:116,838,918 | C/T | — | uncertain significance |
| rs781396590 | 9:116,838,920 | C/T | — | uncertain significance |
| rs2490295805 | 9:116,838,949 | C/T | — | uncertain significance |
| rs772408743 | 9:116,838,957 | C/T | — | uncertain significance |
| rs143305185 | 9:116,838,986 | G/A | — | uncertain significance |
| rs535072502 | 9:116,840,374 | C/T | — | uncertain significance |
| rs1297726155 | 9:116,840,400 | T/G | — | uncertain significance |
| rs752590770 | 9:116,840,423 | G/C | — | uncertain significance |
| rs2134858807 | 9:116,840,434 | G/A | — | uncertain significance |
| rs113268476 | 9:116,840,477 | C/T | — | conflicting classifications of pathogenicity |
| rs766726445 | 9:116,840,485 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.