| Mutation ID |
11 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19556050:19556050(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.909C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19542391:19542391(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs569046401
|
| CDS Mutation |
c.136-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SLC47A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19555834:19555834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.778C>A |
| AA Mutation |
p.Leu260Ile(p.L260I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000270570 |
| Start |
19567121:19567121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1202G>T |
| AA Mutation |
p.Gly401Val(p.G401V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000270570 |
| Start |
19577476:19577476(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777007184
|
| CDS Mutation |
c.1636C>T |
| AA Mutation |
p.Arg546Ter(p.R546*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|