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Overview
Mutation
Expression
Methylation
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Timeline
Colon Cancer: Gene >> SMPD3
Mutation ID
1
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68361740:68361740(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs765258721
CDS Mutation
c.1729G>A
AA Mutation
p.Gly577Ser(p.G577S)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
2
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68371988:68371988(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.194C>A
AA Mutation
p.Pro65His(p.P65H)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
3
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68372040:68372040(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs145200320
CDS Mutation
c.142C>T
AA Mutation
p.Arg48Trp(p.R48W)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
4
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68371823:68371823(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.359C>T
AA Mutation
p.Pro120Leu(p.P120L)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
5
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68370930:68370930(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1252G>A
AA Mutation
p.Val418Met(p.V418M)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
6
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68361237:68361237(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.1937T>C
AA Mutation
p.Leu646Pro(p.L646P)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
7
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68371054:68371054(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
null
CDS Mutation
c.1128G>T
AA Mutation
p.Glu376Asp(p.E376D)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
8
Mutation Consequence
missense_variant
Transcription ID
ENST00000219334
Start
68371712:68371712(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
novel
CDS Mutation
c.470G>T
AA Mutation
p.Arg157Ile(p.R157I)
Mutation Classification
Missense_Mutation
Feature Type
Transcript
Mutation ID
9
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000219334
Start
68371045:68371045(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs746970417
CDS Mutation
c.1137C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
10
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000219334
Start
68361663:68361663(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs760980245
CDS Mutation
c.1806C>T
Mutation Classification
Silent
Feature Type
Transcript
Mutation ID
11
Mutation Consequence
synonymous_variant
Transcription ID
ENST00000219334
Start
68371960:68371960(version: GRCh38)
Mutation Type
SNP
dbSNP_RS
rs766503967
CDS Mutation
c.222G>A
Mutation Classification
Silent
Feature Type
Transcript
Rectum Cancer: Gene >> SMPD3
No Mutation Annotation!