ACTG1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | actin, gamma 1 |
| EntrezGene | 71 |
| PheGenI | 71 |
| VariationViewer | 71 |
| ClinVar | ACTG1 |
| GeneCards | ACTG1 |
| dbSNP | 71 |
| Diseases | ACTG1 |
| SADR | 71 |
| HugeNav | 71 |
| wikipedia | ACTG1 |
| ACTG1 | |
| gopubmed | ACTG1 |
| EVS | ACTG1 |
| HEFalMp | ACTG1 |
| MyGene2 | ACTG1 |
| 23andMe | ACTG1 |
| UniProt | P63261 |
| Ensembl | ENSG00000184009 |
| OMIM | 102560 |
| # SNPs | 21 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894544 | 0 | 81,511,913 | |
| rs104894545 | 0 | 81,510,824 | |
| rs104894546 | 0 | 81,511,199 | |
| rs104894547 | 0 | 81,510,709 | |
| rs1057518086 | 0 | 81,512,312 | |
| rs1057518673 | 0 | 81,512,237 | |
| rs1057524703 | 0 | 81,511,353 | |
| rs11549190 | 0 | 81,511,586 | |
| rs267606630 | 0 | 81,511,912 | |
| rs267606631 | 0 | 81,511,269 | |
| rs281875325 | 0 | 81,511,907 | |
| rs281875326 | 0 | 81,511,526 | |
| rs281875327 | 0 | 81,511,382 | |
| rs281875328 | 0 | 81,511,230 | |
| rs281875329 | 0 | 81,511,224 | |
| rs281875330 | 0 | 81,511,626 | |
| rs28999111 | 0 | 81,512,000 | |
| rs28999112 | 0 | 81,511,078 | |
| rs587780275 | 0 | 81,511,392 | |
| rs886041280 | 0 | 81,512,135 | |
| rs886041756 | 0 | 81,511,048 |
Associated with deafness; DFNA20/26
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.[PMID 28493397] Note: the mutation described in this publication, p.Pro70Leu, is not known to correspond to any defined SNP (rs-id) at this time. news
