No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 7 | 122634843 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.846G>A | p.T282T | syn | rs1204014 | 0.2247 | T=367/C=8233;T=1246/C=3160;T=1613/C=11393 | - | - | - | - | het | 87 |
2 | 7 | 122634843 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.846G>A | p.T282T | syn | rs1204014 | 0.2247 | T=367/C=8233;T=1246/C=3160;T=1613/C=11393 | - | - | - | - | hom | 1 |
3 | 7 | 122634850 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.839G>A | p.S280N | non-syn | NA | - | - | - | TOLERATED | P | - | het | 1 |
4 | 7 | 122635024 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.665G>A | p.R222H | non-syn | rs860170 | 0.72022 | T=5822/C=2778;T=3984/C=422;T=9806/C=3200 | - | TOLERATED | B | - | hom | 498 |
5 | 7 | 122635024 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.665G>A | p.R222H | non-syn | rs860170 | 0.72022 | T=5822/C=2778;T=3984/C=422;T=9806/C=3200 | - | TOLERATED | B | - | het | 390 |
6 | 7 | 122635026 | C | A | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.663G>T | p.A221A | syn | rs150899693 | - | A=0/C=8600;A=2/C=4404;A=2/C=13004 | - | - | - | - | het | 1 |
7 | 7 | 122635173 | A | C | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.516T>G | p.N172K | non-syn | rs846664 | 0.2082 | C=11/A=8589;C=1206/A=3200;C=1217/A=11789 | - | TOLERATED | B | Alcohol dependence, risk, assoc. with | het | 21 |
8 | 7 | 122635173 | A | C | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.516T>G | p.N172K | non-syn | rs846664 | 0.2082 | C=11/A=8589;C=1206/A=3200;C=1217/A=11789 | - | TOLERATED | B | Alcohol dependence, risk, assoc. with | hom | 1 |
9 | 7 | 122635229 | A | G | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.460T>C | p.L154L | syn | rs2233989 | 0.085 | G=3/A=8597;G=510/A=3896;G=513/A=12493 | - | - | - | - | het | 8 |
10 | 7 | 122635342 | A | G | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.347T>C | p.L116P | non-syn | rs28371575 | - | - | lod=32:340 | DAMAGING | D | - | het | 1 |
11 | 7 | 122635386 | C | G | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.303G>C | p.V101V | syn | rs2692396 | 0.1918 | G=6/C=8594;G=1015/C=3391;G=1021/C=11985 | - | - | - | - | hom | 1 |
12 | 7 | 122635389 | G | A | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.300C>T | p.T100T | syn | rs2233988 | 0.1918 | A=7/G=8593;A=1009/G=3397;A=1016/G=11990 | - | - | - | - | hom | 1 |
13 | 7 | 122635596 | C | T | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.93G>A | p.V31V | syn | rs144098634 | - | - | - | - | - | - | het | 1 |
14 | 7 | 122635645 | A | G | ENST00000249284 | ENSG00000128519 | 122634759 | 122635754 | ENSP00000249284 | TAS2R16 | -1 | T2R16_HUMAN | c.44T>C | p.V15A | non-syn | rs141452852 | - | G=11/A=8589;G=1/A=4405;G=12/A=12994 | - | TOLERATED | P | - | het | 2 |