SAMM50
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | SAMM50 sorting and assembly machinery component |
| EntrezGene | 25813 |
| PheGenI | 25813 |
| VariationViewer | 25813 |
| ClinVar | SAMM50 |
| GeneCards | SAMM50 |
| dbSNP | 25813 |
| Diseases | SAMM50 |
| SADR | 25813 |
| HugeNav | 25813 |
| wikipedia | SAMM50 |
| SAMM50 | |
| gopubmed | SAMM50 |
| EVS | SAMM50 |
| HEFalMp | SAMM50 |
| MyGene2 | SAMM50 |
| 23andMe | SAMM50 |
| UniProt | Q9Y512 |
| Ensembl | ENSG00000100347 |
| OMIM | 612058 |
| # SNPs | 5 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs200604349 | 4 | 43,989,164 | |
| rs2143571 | 0 | 43,995,806 | |
| rs3761472 | 0 | 43,972,242 | |
| rs738491 | 0 | 43,958,231 | |
| rs775334315 | 4 | 43,976,097 |
http://describingezra.org/ compound heterozygosity P377A and V2311; if you carry one or two of these alleles the authors of that blog would probably like to hear from you.
Note: the "Ezra" website does say "V2311", but this appears to be a typo; the mutation is most likely to be V231I (Val231Ile), which is rs775334315
P377A is rs200604349
