Product Details
- SNP ID
-
rs201387067
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:54182287 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGTCGCCCAACTCCCACCACCAGCC[A/G]CACCCCCAGCAGCTGCACCTGCCGG
- Phenotype
-
MIM: 607753
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SMUG1
PubMed Links
Gene Details
- Gene
- SMUG1
- Gene Name
- single-strand-selective monofunctional uracil-DNA glycosylase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001243787.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
NP_001230716.1 |
NM_001243788.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
NP_001230717.1 |
NM_001243789.1 |
723 |
Intron |
|
|
NP_001230718.1 |
NM_001243790.1 |
723 |
Intron |
|
|
NP_001230719.1 |
NM_001243791.1 |
723 |
Intron |
|
|
NP_001230720.1 |
NM_014311.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
NP_055126.1 |
XM_006719319.3 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_006719382.1 |
XM_006719320.3 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_006719383.1 |
XM_006719321.3 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_006719384.1 |
XM_006719322.3 |
723 |
Intron |
|
|
XP_006719385.1 |
XM_011538109.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536411.1 |
XM_011538110.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536412.1 |
XM_011538111.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536413.1 |
XM_011538112.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536414.1 |
XM_011538113.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536415.1 |
XM_011538114.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536416.1 |
XM_011538115.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536417.1 |
XM_011538116.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536418.1 |
XM_011538117.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536419.1 |
XM_011538118.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536420.1 |
XM_011538119.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536421.1 |
XM_011538120.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536422.1 |
XM_011538121.2 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_011536423.1 |
XM_011538122.2 |
723 |
Intron |
|
|
XP_011536424.1 |
XM_011538123.2 |
723 |
Intron |
|
|
XP_011536425.1 |
XM_017019113.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_016874602.1 |
XM_017019114.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_016874603.1 |
XM_017019115.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_016874604.1 |
XM_017019116.1 |
723 |
Missense Mutation |
CGG,TGG |
R208W |
XP_016874605.1 |
XM_017019117.1 |
723 |
Intron |
|
|
XP_016874606.1 |
XM_017019118.1 |
723 |
Intron |
|
|
XP_016874607.1 |
XM_017019119.1 |
723 |
Intron |
|
|
XP_016874608.1 |
XM_017019120.1 |
723 |
Intron |
|
|
XP_016874609.1 |
View Full Product Details