Entrez Gene ID | 80036 |
---|---|
Official Gene Symbol | TRPM3 (GeneCards) |
Full name | transient receptor potential cation channel subfamily M member 3 |
Location | 9q21.12-q21.13 |
Other ids | Vega : OTTHUMG00000019997 MIM : 608961 HGNC : HGNC:17992 Ensembl : ENSG00000083067 |
Other names | GON-2, MLSN2, LTRPC3 |
Summary | The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] |
Found 15 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
13176 | 80036 | TRPM3 | 9 | 74206697 | 74206697 | Asymptomatic | HiSeq X Ten |
13231 | 80036 | TRPM3 | 9 | 73370808 | 73370808 | Asymptomatic | HiSeq X Ten |
13253 | 80036 | TRPM3 | 9 | 73859273 | 73859273 | Asymptomatic | HiSeq X Ten |
13365 | 80036 | TRPM3 | 9 | 74266050 | 74266050 | Asymptomatic | HiSeq X Ten |
13419 | 80036 | TRPM3 | 9 | 73295786 | 73295786 | Asymptomatic | HiSeq X Ten |
13477 | 80036 | TRPM3 | 9 | 73863237 | 73863237 | Asymptomatic | HiSeq X Ten |
13538 | 80036 | TRPM3 | 9 | 73490441 | 73490441 | Asymptomatic | HiSeq X Ten |
13587 | 80036 | TRPM3 | 9 | 74117090 | 74117090 | Asymptomatic | HiSeq X Ten |
13658 | 80036 | TRPM3 | 9 | 73811329 | 73811329 | Cockayne syndrome | HiSeq X Ten |
13685 | 80036 | TRPM3 | 9 | 73295972 | 73295972 | Cockayne syndrome | HiSeq X Ten |
13721 | 80036 | TRPM3 | 9 | 73600349 | 73600349 | Cockayne syndrome | HiSeq X Ten |
13763 | 80036 | TRPM3 | 9 | 73750936 | 73750936 | Xeroderma Pigmentosum | HiSeq X Ten |
13805 | 80036 | TRPM3 | 9 | 73798296 | 73798296 | Xeroderma Pigmentosum | HiSeq X Ten |
23424 | 80036 | TRPM3 | 9 | 73208693 | 73208693 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
26923 | 80036 | TRPM3 | 9 | 73398040 | 73398040 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |