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GAAGCTGCCGTTTTTCCTGAAGTTG[C/T]GTAAGTAAAATTCACAAATACTTTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603579 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RIOK3 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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RIOK3 - RIO kinase 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003831.3 | 796 | Missense Mutation | GCT,GTT | A,V 60 | NP_003822.2 | |
XM_011526242.1 | 796 | UTR 5 | XP_011524544.1 | |||
XM_011526243.1 | 796 | UTR 5 | XP_011524545.1 |