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CTGTTCTCTAGTGAACCAGCGGGCA[A/T]CCTCTATTTCATTCTTGTCAACTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609232 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUDT12 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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NUDT12 - nudix hydrolase 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300741.1 | 1304 | Missense Mutation | GAT,GTT | D,V 400 | NP_001287670.1 | |
NM_031438.3 | 1304 | Missense Mutation | GAT,GTT | D,V 418 | NP_113626.1 | |
XM_005272095.1 | 1304 | Missense Mutation | GAT,GTT | D,V 418 | XP_005272152.1 | |
XM_005272097.3 | 1304 | Missense Mutation | GAT,GTT | D,V 400 | XP_005272154.1 |