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CTAGTGTGAACAGAGGGCCAGAAAA[A/C]ATCAGACCAGAATGTTTTGAGCTAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 608938 | ||||||||||||||||||||
Literature Links: |
RPS6KB1 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 |
RPS6KB1 - ribosomal protein S6 kinase B1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272042.1 | 394 | Missense Mutation | AAA,AAC | K,N 85 | NP_001258971.1 | |
NM_001272043.1 | 394 | Missense Mutation | AAA,AAC | K,N 85 | NP_001258972.1 | |
NM_001272044.1 | 394 | Missense Mutation | AAA,AAC | K,N 32 | NP_001258973.1 | |
NM_001272060.1 | 394 | Missense Mutation | AAA,AAC | K,N 62 | NP_001258989.1 | |
NM_003161.3 | 394 | Missense Mutation | AAA,AAC | K,N 85 | NP_003152.1 | |
XM_011525101.2 | 394 | Missense Mutation | AAA,AAC | K,N 85 | XP_011523403.1 | |
XM_011525102.2 | 394 | Missense Mutation | AAA,AAC | K,N 85 | XP_011523404.1 | |
XM_011525103.2 | 394 | UTR 5 | XP_011523405.1 | |||
XM_017024929.1 | 394 | Missense Mutation | AAA,AAC | K,N 32 | XP_016880418.1 | |
XM_017024930.1 | 394 | UTR 5 | XP_016880419.1 | |||
XM_017024931.1 | 394 | UTR 5 | XP_016880420.1 | |||
XM_017024932.1 | 394 | UTR 5 | XP_016880421.1 | |||
XM_017024933.1 | 394 | UTR 5 | XP_016880422.1 |