SAMM50
SAMM50 sorting and assembly machinery component
Summary
This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs754290245 | 22:44,351,476 | C/T | — | uncertain significance |
| rs738491 | 22:44,354,111 | C/T | downstream gene variant | — |
| rs56219234 | 22:44,357,894 | G/C | — | — |
| rs2050156850 | 22:44,359,181 | C/G | — | uncertain significance |
| rs200348301 | 22:44,359,215 | A/G | — | uncertain significance |
| rs116299199 | 22:44,359,246 | A/G | — | benign |
| rs2522744536 | 22:44,359,248 | C/T | — | uncertain significance |
| rs2522744586 | 22:44,359,266 | A/C | — | uncertain significance |
| rs143095808 | 22:44,360,335 | G/A | — | likely benign |
| rs372186642 | 22:44,364,617 | C/T | — | uncertain significance |
| rs3761472 | 22:44,368,122 | A/G | missense variant | — |
| rs201341859 | 22:44,368,133 | A/G | — | uncertain significance |
| rs556789427 | 22:44,368,145 | G/A | — | uncertain significance |
| rs142127145 | 22:44,368,196 | A/G | — | uncertain significance |
| rs3177036 | 22:44,368,204 | G/A | — | benign |
| rs932430 | 22:44,368,741 | T/C | — | benign |
| rs372431320 | 22:44,368,785 | G/A | — | uncertain significance |
| rs771203161 | 22:44,368,859 | C/T | — | uncertain significance |
| rs183923403 | 22:44,368,865 | G/A | — | uncertain significance |
| rs374982740 | 22:44,369,137 | A/T | — | uncertain significance |
| rs150292452 | 22:44,369,168 | C/T | — | uncertain significance |
| rs113373406 | 22:44,369,169 | G/A | — | uncertain significance |
| rs34677401 | 22:44,369,176 | G/A | — | benign |
| rs751747955 | 22:44,371,944 | T/G | — | uncertain significance |
| rs755098914 | 22:44,371,950 | A/G | — | uncertain significance |
| rs775334315 | 22:44,371,977 | G/A | missense variant | — |
| rs769314961 | 22:44,372,062 | C/T | — | uncertain significance |
| rs2073084 | 22:44,372,069 | G/A | — | benign |
| rs1461193272 | 22:44,373,755 | C/A | — | uncertain significance |
| rs118006199 | 22:44,373,820 | G/A | — | benign |
| rs375707409 | 22:44,377,323 | C/T | — | uncertain significance |
| rs775931631 | 22:44,379,852 | C/G | — | uncertain significance |
| rs12167845 | 22:44,380,767 | T/C | intron variant | — |
| rs200604349 | 22:44,385,044 | C/G | missense variant | uncertain significance |
| rs765065046 | 22:44,385,057 | G/A | — | uncertain significance |
| rs766529644 | 22:44,385,097 | C/G | — | uncertain significance |
| rs35939255 | 22:44,385,109 | C/T | — | benign |
| rs1368399386 | 22:44,386,151 | G/T | — | uncertain significance |
| rs139551220 | 22:44,386,189 | C/T | — | uncertain significance |
| rs201556963 | 22:44,386,192 | T/C | — | uncertain significance |
| rs150932882 | 22:44,386,199 | A/G | — | uncertain significance |
| rs769263451 | 22:44,386,213 | G/T | — | uncertain significance |
| rs770786826 | 22:44,386,237 | C/T | — | uncertain significance |
| rs2143571 | 22:44,391,686 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.