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AAATCTTACAGGCCAGTTGATGTTC[A/G]CTTTTTCATGCTCCGTCGCTGGGCT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 2203 | Nonsense Mutation | CGA,TGA | R,* 740 | NP_055311.1 | |
XM_011530917.2 | 2203 | Nonsense Mutation | CGA,TGA | R,* 740 | XP_011529219.1 | |
XM_011530918.2 | 2203 | Nonsense Mutation | CGA,TGA | R,* 740 | XP_011529220.1 | |
XM_011530919.2 | 2203 | Nonsense Mutation | CGA,TGA | R,* 637 | XP_011529221.1 | |
XM_011530920.2 | 2203 | Nonsense Mutation | CGA,TGA | R,* 619 | XP_011529222.1 | |
XM_017029423.1 | 2203 | Nonsense Mutation | CGA,TGA | R,* 757 | XP_016884912.1 | |
XM_017029424.1 | 2203 | Nonsense Mutation | CGA,TGA | R,* 757 | XP_016884913.1 | |
XM_017029425.1 | 2203 | Nonsense Mutation | CGA,TGA | R,* 757 | XP_016884914.1 | |
XM_017029426.1 | 2203 | Nonsense Mutation | CGA,TGA | R,* 501 | XP_016884915.1 |