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GCGGCGGCCAGGAGTCGGAGTCGGA[A/G]TCGTGGTGACCAGCTGCAAGCATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615792 MIM: 603921 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUDT15 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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NUDT15 - nudix hydrolase 15 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304745.1 | 175 | Missense Mutation | ATC,GTC | I,V 18 | NP_001291674.1 | |
NM_018283.3 | 175 | Missense Mutation | ATC,GTC | I,V 18 | NP_060753.1 |
SUCLA2 - succinate-CoA ligase ADP-forming beta subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003850.2 | 175 | Intron | NP_003841.1 | |||
XM_017020806.1 | 175 | UTR 5 | XP_016876295.1 | |||
XM_017020807.1 | 175 | Intron | XP_016876296.1 | |||
XM_017020808.1 | 175 | Intron | XP_016876297.1 | |||
XM_017020809.1 | 175 | Intron | XP_016876298.1 |