| Entrez Gene ID | 64092 |
|---|---|
| Official Gene Symbol | SAMSN1 (GeneCards) |
| Full name | SAM domain, SH3 domain and nuclear localization signals 1 |
| Location | 21q11.2 |
| Other ids | Vega : OTTHUMG00000074317 MIM : 607978 HGNC : HGNC:10528 Ensembl : ENSG00000155307 |
| Other names | SLy2, HACS1, NASH1, SASH2, SH3D6B |
| Summary | SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21608 | 64092 | SAMSN1 | 21 | 15895507 | 15895507 | Asymptomatic | HiSeq X Ten |
| 21769 | 64092 | SAMSN1 | 21 | 15928194 | 15928194 | Cockayne syndrome | HiSeq X Ten |