TPH2
tryptophan hydroxylase 2
Summary
This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]
Known Variants83 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4570625 | 12:72,331,923 | G/T | 2kb upstream variant | — |
| rs11178997 | 12:72,332,153 | T/A | upstream gene variant | — |
| rs187840760 | 12:72,332,679 | G/T | — | uncertain significance |
| rs886049813 | 12:72,332,685 | C/T | — | uncertain significance |
| rs11178998 | 12:72,332,715 | A/G | regulatory region variant | benign |
| rs201345752 | 12:72,332,733 | C/G | — | uncertain significance |
| rs781518671 | 12:72,332,803 | T/G | — | uncertain significance |
| rs4341581 | 12:72,335,073 | G/C | — | — |
| rs34115267 | 12:72,335,364 | C/G | — | likely benign |
| rs199775778 | 12:72,335,365 | T/C | — | uncertain significance |
| rs78162420 | 12:72,335,380 | C/A | missense variant | likely benign |
| rs7954758 | 12:72,335,794 | A/C | — | — |
| rs10748185 | 12:72,335,855 | G/A | regulatory region variant | — |
| rs4565946 | 12:72,336,769 | C/A | — | — |
| rs369666173 | 12:72,338,062 | G/A | — | uncertain significance |
| rs779979959 | 12:72,338,080 | C/T | — | uncertain significance |
| rs530018658 | 12:72,338,117 | G/A | — | uncertain significance |
| rs780521084 | 12:72,338,178 | T/G | — | uncertain significance |
| rs762749616 | 12:72,338,214 | T/A | — | uncertain significance |
| rs886049814 | 12:72,338,231 | C/T | — | uncertain significance |
| rs886049815 | 12:72,338,266 | G/A | — | uncertain significance |
| rs139968591 | 12:72,338,466 | A/G | — | likely benign |
| rs11179000 | 12:72,338,628 | A/T | intron variant | — |
| rs11179002 | 12:72,342,284 | C/T | regulatory region variant | — |
| rs756840935 | 12:72,343,382 | T/A | — | uncertain significance |
| rs1843809 | 12:72,348,698 | G/T | intron variant | — |
| rs7955501 | 12:72,350,026 | T/A | regulatory region variant | — |
| rs1386496 | 12:72,350,790 | G/T | — | — |
| rs1386494 | 12:72,352,543 | T/A | — | — |
| rs1386493 | 12:72,355,179 | A/G | intron variant | — |
| rs2171363 | 12:72,360,264 | A/T | — | — |
| rs7963720 | 12:72,366,186 | C/G | — | — |
| rs376240384 | 12:72,366,292 | T/C | — | uncertain significance |
| rs17110563 | 12:72,366,306 | C/T | missense variant | risk factor |
| rs41317132 | 12:72,366,326 | T/C | — | benign |
| rs149833912 | 12:72,366,368 | G/A | — | uncertain significance |
| rs764334872 | 12:72,366,416 | C/T | — | uncertain significance |
| rs4760816 | 12:72,372,601 | C/T | intron variant | — |
| rs1328017774 | 12:72,372,798 | T/G | — | uncertain significance |
| rs120074176 | 12:72,372,833 | C/T | missense variant | risk factor |
| rs7305115 | 12:72,372,862 | A/G | synonymous variant | benign |
| rs11179027 | 12:72,377,312 | G/C | intron variant | — |
| rs10506645 | 12:72,385,500 | C/T | intron variant | — |
| rs2887147 | 12:72,388,260 | C/G | — | uncertain significance |
| rs886049816 | 12:72,388,327 | T/C | — | uncertain significance |
| rs1007023 | 12:72,388,374 | G/A | — | — |
| rs1386497 | 12:72,392,290 | C/G | — | — |
| rs4760820 | 12:72,396,996 | C/G | intron variant | — |
| rs1386498 | 12:72,398,143 | A/C | — | — |
| rs1487278 | 12:72,400,851 | T/C | intron variant | — |
| rs1473473 | 12:72,404,378 | C/T | regulatory region variant | — |
| rs1487276 | 12:72,405,059 | T/G | — | — |
| rs17110690 | 12:72,407,997 | G/A | intron variant | — |
| rs1487275 | 12:72,410,292 | C/T | — | — |
| rs1386486 | 12:72,412,220 | A/G | intron variant | — |
| rs1386483 | 12:72,412,494 | T/G | — | — |
| rs1386482 | 12:72,412,572 | T/G | intron variant | — |
| rs10879355 | 12:72,413,009 | T/A | — | — |
| rs10879357 | 12:72,414,563 | A/G | intron variant | — |
| rs4469933 | 12:72,414,717 | C/T | intron variant | — |
| rs11615016 | 12:72,415,994 | A/G | intron variant | — |
| rs4290270 | 12:72,416,235 | A/T | synonymous variant | benign |
| rs566662957 | 12:72,416,281 | A/G | — | uncertain significance |
| rs771301512 | 12:72,425,130 | C/T | — | uncertain significance |
| rs772800564 | 12:72,425,185 | T/C | — | uncertain significance |
| rs120074175 | 12:72,425,324 | G/A | missense variant | risk factor |
| rs773992105 | 12:72,425,345 | A/G | — | uncertain significance |
| rs150148746 | 12:72,425,413 | C/T | — | uncertain significance |
| rs147025898 | 12:72,425,419 | G/A | — | uncertain significance |
| rs886049817 | 12:72,425,446 | A/G | — | uncertain significance |
| rs749203702 | 12:72,425,511 | T/G | — | uncertain significance |
| rs41317118 | 12:72,425,624 | G/A | — | likely benign |
| rs944430090 | 12:72,425,779 | C/T | — | uncertain significance |
| rs778405758 | 12:72,425,840 | A/G | — | uncertain significance |
| rs41317116 | 12:72,425,899 | C/T | — | uncertain significance |
| rs772937212 | 12:72,425,909 | G/A | — | uncertain significance |
| rs17110747 | 12:72,425,954 | G/A | 3 prime UTR variant | benign |
| rs1873744349 | 12:72,426,065 | A/G | — | uncertain significance |
| rs542695749 | 12:72,426,125 | T/C | — | uncertain significance |
| rs537808122 | 12:72,426,134 | C/T | — | uncertain significance |
| rs886049820 | 12:72,426,135 | G/A | — | uncertain significance |
| rs540692954 | 12:72,426,180 | G/A | — | uncertain significance |
| rs146131690 | 12:72,426,206 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.