| Mutation ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000371756 |
| Start |
135939759:135939759(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.877G>A |
| AA Mutation |
p.Ala293Thr(p.A293T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371756 |
| Start |
135953729:135953729(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs559087791
|
| CDS Mutation |
c.284G>A |
| AA Mutation |
p.Arg95His(p.R95H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000371756 |
| Start |
135946324:135946324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774521558
|
| CDS Mutation |
c.489G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBAC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000371756 |
| Start |
135946321:135946321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.492G>T |
| AA Mutation |
p.Gln164His(p.Q164H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|