| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000310926 |
| Start |
133935893:133935893(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1695G>A |
| AA Mutation |
p.Trp565Ter(p.W565*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133953661:133953661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.724+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLCO2A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133938437:133938437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764541223
|
| CDS Mutation |
c.1682G>A |
| AA Mutation |
p.Arg561His(p.R561H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133947355:133947355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs532222872
|
| CDS Mutation |
c.1196G>A |
| AA Mutation |
p.Arg399His(p.R399H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133955181:133955181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202244173
|
| CDS Mutation |
c.410G>A |
| AA Mutation |
p.Arg137His(p.R137H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000310926 |
| Start |
133954980:133954980(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555934769
|
| CDS Mutation |
c.611C>T |
| AA Mutation |
p.Ser204Leu(p.S204L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|