| Entrez Gene ID | 55151 |
|---|---|
| Official Gene Symbol | TMEM38B (GeneCards) |
| Full name | transmembrane protein 38B |
| Location | 9q31.2 |
| Other ids | Vega : OTTHUMG00000020429 MIM : 611236 HGNC : HGNC:25535 Ensembl : ENSG00000095209 |
| Other names | OI14, TRICB, TRIC-B, C9orf87, D4Ertd89e, bA219P18.1 |
| Summary | This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 12924 | 55151 | TMEM38B | 9 | 108933611 | 108933611 | Asymptomatic | HiSeq X Ten |
| 13087 | 55151 | TMEM38B | 9 | 108918533 | 108918533 | Asymptomatic | HiSeq X Ten |
| 13156 | 55151 | TMEM38B | 9 | 108602846 | 108602846 | Asymptomatic | HiSeq X Ten |
| 26960 | 55151 | TMEM38B | 9 | 108921477 | 108921477 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29546 | 55151 | TMEM38B | 9 | 108536306 | 108536306 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning MiSeq |