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TCAACAATCGCATCCGGATGATAGG[A/G]CAGATTTGTGAAGTCGCAAAAACCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602656 MIM: 191092 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NTHL1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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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
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NTHL1 - nth-like DNA glycosylase 1 | ||||||
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There are no transcripts associated with this gene. |
TSC2 - tuberous sclerosis 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000548.4 | 287 | Silent Mutation | GGA,GGG | G,G 62 | NP_000539.2 | |
NM_001077183.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | NP_001070651.1 | |
NM_001114382.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | NP_001107854.1 | |
NM_001318827.1 | 287 | Silent Mutation | GGA,GGG | G,G 62 | NP_001305756.1 | |
NM_001318829.1 | 287 | Silent Mutation | GGA,GGG | G,G 13 | NP_001305758.1 | |
NM_001318831.1 | 287 | UTR 5 | NP_001305760.1 | |||
NM_001318832.1 | 287 | Silent Mutation | GGA,GGG | G,G 73 | NP_001305761.1 | |
XM_005255529.4 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_005255586.2 | |
XM_005255531.4 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_005255588.2 | |
XM_011522636.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_011520938.1 | |
XM_011522637.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_011520939.1 | |
XM_011522638.2 | 287 | Silent Mutation | GGA,GGG | G,G 153 | XP_011520940.2 | |
XM_011522639.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_011520941.1 | |
XM_011522640.2 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_011520942.1 | |
XM_017023615.1 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_016879104.1 | |
XM_017023616.1 | 287 | Silent Mutation | GGA,GGG | G,G 62 | XP_016879105.1 | |
XM_017023617.1 | 287 | Silent Mutation | GGA,GGG | G,G 153 | XP_016879106.1 | |
XM_017023618.1 | 287 | UTR 5 | XP_016879107.1 |