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Search Thermo Fisher Scientific
TGTGGTGCATCCTGTCTGTTTAGTT[G/A]GTATTGTGGCAGTTGGTCCCAGTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300075 | ||||||||||||||||||||
Literature Links: |
RPS6KA3 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 |
RPS6KA3 - ribosomal protein S6 kinase A3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004586.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 689 | NP_004577.1 | |
XM_005274573.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 688 | XP_005274630.1 | |
XM_005274577.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 659 | XP_005274634.1 | |
XM_006724507.3 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 660 | XP_006724570.1 | |
XM_011545555.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 695 | XP_011543857.1 | |
XM_011545556.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 694 | XP_011543858.1 | |
XM_011545557.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 667 | XP_011543859.1 | |
XM_011545558.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 667 | XP_011543860.1 | |
XM_011545559.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 667 | XP_011543861.1 | |
XM_011545560.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 667 | XP_011543862.1 | |
XM_011545561.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 667 | XP_011543863.1 | |
XM_011545562.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 666 | XP_011543864.1 | |
XM_011545563.2 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_011543865.1 | |
XM_017029713.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_016885202.1 | |
XM_017029714.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_016885203.1 | |
XM_017029715.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_016885204.1 | |
XM_017029716.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_016885205.1 | |
XM_017029717.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 661 | XP_016885206.1 | |
XM_017029718.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 660 | XP_016885207.1 | |
XM_017029719.1 | 2248 | Nonsense Mutation | CAA,TAA | Q,* 660 | XP_016885208.1 |