Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> UPP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000005756
Start	158115227:158115227(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.307A>G
AA Mutation	p.Met103Val(p.M103V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000005756
Start	158121477:158121477(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.523C>G
AA Mutation	p.Gln175Glu(p.Q175E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000005756
Start	158134817:158134817(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.881T>C
AA Mutation	p.Leu294Pro(p.L294P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000005756
Start	158102072:158102072(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000005756
Start	158121587:158121587(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.633A>T
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000005756
Start	158117929:158117929(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.449delG
AA Mutation	p.Gly150GlufsTer2(p.G150Efs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	start_lost
Transcription ID	ENST00000005756
Start	158102064:158102064(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1A>C
AA Mutation	p.Met1?(p.M1?)
Mutation Classification	Translation_Start_Site
Feature Type	Transcript

Rectum Cancer: Gene >> UPP2

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000005756
Start	158117899:158117899(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.415G>A
AA Mutation	p.Asp139Asn(p.D139N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000005756
Start	158123791:158123791(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	rs759424183
CDS Mutation	c.713delA
AA Mutation	p.Lys238SerfsTer2(p.K238Sfs*2)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	stop_gained
Transcription ID	ENST00000005756
Start	158121525:158121525(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.571G>T
AA Mutation	p.Glu191Ter(p.E191*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript