Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGTCGTGCCCGCTGCTCTGCCAGTC[A/G]CCCAACTCCCACCACCAGCCGCACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607753 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SMUG1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
SMUG1 - single-strand-selective monofunctional uracil-DNA glycosylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243787.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | NP_001230716.1 | |
NM_001243788.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | NP_001230717.1 | |
NM_001243789.1 | 744 | Intron | NP_001230718.1 | |||
NM_001243790.1 | 744 | Intron | NP_001230719.1 | |||
NM_001243791.1 | 744 | Intron | NP_001230720.1 | |||
NM_014311.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | NP_055126.1 | |
XM_006719319.3 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_006719382.1 | |
XM_006719320.3 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_006719383.1 | |
XM_006719321.3 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_006719384.1 | |
XM_006719322.3 | 744 | Intron | XP_006719385.1 | |||
XM_011538109.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536411.1 | |
XM_011538110.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536412.1 | |
XM_011538111.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536413.1 | |
XM_011538112.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536414.1 | |
XM_011538113.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536415.1 | |
XM_011538114.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536416.1 | |
XM_011538115.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536417.1 | |
XM_011538116.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536418.1 | |
XM_011538117.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536419.1 | |
XM_011538118.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536420.1 | |
XM_011538119.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536421.1 | |
XM_011538120.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536422.1 | |
XM_011538121.2 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_011536423.1 | |
XM_011538122.2 | 744 | Intron | XP_011536424.1 | |||
XM_011538123.2 | 744 | Intron | XP_011536425.1 | |||
XM_017019113.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_016874602.1 | |
XM_017019114.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_016874603.1 | |
XM_017019115.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_016874604.1 | |
XM_017019116.1 | 744 | Nonsense Mutation | CGA,TGA | R,* 215 | XP_016874605.1 | |
XM_017019117.1 | 744 | Intron | XP_016874606.1 | |||
XM_017019118.1 | 744 | Intron | XP_016874607.1 | |||
XM_017019119.1 | 744 | Intron | XP_016874608.1 | |||
XM_017019120.1 | 744 | Intron | XP_016874609.1 |