| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69112674:69112674(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1528A>C |
| AA Mutation |
p.Lys510Gln(p.K510Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69108323:69108323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753618139
|
| CDS Mutation |
c.1310+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UGT2B7
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69112692:69112692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1546T>C |
| AA Mutation |
p.Phe516Leu(p.F516L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69107224:69107224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1052C>G |
| AA Mutation |
p.Thr351Ser(p.T351S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000305231 |
| Start |
69097192:69097192(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs560135869
|
| CDS Mutation |
c.672C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|