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CAAATCTTACAGGCCAGTTGATGTT[C/T]GCTTTTTCATGCTCCGTCGCTGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300303 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RPS6KA6 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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RPS6KA6 - ribosomal protein S6 kinase A6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014496.4 | 2204 | Missense Mutation | CAA,CGA | Q,R 740 | NP_055311.1 | |
XM_011530917.2 | 2204 | Missense Mutation | CAA,CGA | Q,R 740 | XP_011529219.1 | |
XM_011530918.2 | 2204 | Missense Mutation | CAA,CGA | Q,R 740 | XP_011529220.1 | |
XM_011530919.2 | 2204 | Missense Mutation | CAA,CGA | Q,R 637 | XP_011529221.1 | |
XM_011530920.2 | 2204 | Missense Mutation | CAA,CGA | Q,R 619 | XP_011529222.1 | |
XM_017029423.1 | 2204 | Missense Mutation | CAA,CGA | Q,R 757 | XP_016884912.1 | |
XM_017029424.1 | 2204 | Missense Mutation | CAA,CGA | Q,R 757 | XP_016884913.1 | |
XM_017029425.1 | 2204 | Missense Mutation | CAA,CGA | Q,R 757 | XP_016884914.1 | |
XM_017029426.1 | 2204 | Missense Mutation | CAA,CGA | Q,R 501 | XP_016884915.1 |