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TAGACCTGGACCAGCCAGAGGACGC[C/G]GGCTCTGAGGATGAGCTGGAGGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608938 MIM: 607344 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RPS6KB1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
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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RPS6KB1 - ribosomal protein S6 kinase B1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272042.1 | 253 | Silent Mutation | GCC,GCG | A,A 38 | NP_001258971.1 | |
NM_001272043.1 | 253 | Silent Mutation | GCC,GCG | A,A 38 | NP_001258972.1 | |
NM_001272044.1 | 253 | UTR 5 | NP_001258973.1 | |||
NM_001272060.1 | 253 | Silent Mutation | GCC,GCG | A,A 15 | NP_001258989.1 | |
NM_003161.3 | 253 | Silent Mutation | GCC,GCG | A,A 38 | NP_003152.1 | |
XM_011525101.2 | 253 | Silent Mutation | GCC,GCG | A,A 38 | XP_011523403.1 | |
XM_011525102.2 | 253 | Silent Mutation | GCC,GCG | A,A 38 | XP_011523404.1 | |
XM_011525103.2 | 253 | UTR 5 | XP_011523405.1 | |||
XM_017024929.1 | 253 | UTR 5 | XP_016880418.1 | |||
XM_017024930.1 | 253 | UTR 5 | XP_016880419.1 | |||
XM_017024931.1 | 253 | UTR 5 | XP_016880420.1 | |||
XM_017024932.1 | 253 | UTR 5 | XP_016880421.1 | |||
XM_017024933.1 | 253 | UTR 5 | XP_016880422.1 |
TUBD1 - tubulin delta 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193609.1 | 253 | Intron | NP_001180538.1 | |||
NM_001193610.1 | 253 | Intron | NP_001180539.1 | |||
NM_001193611.1 | 253 | Intron | NP_001180540.1 | |||
NM_001193612.1 | 253 | Intron | NP_001180541.1 | |||
NM_001193613.1 | 253 | Intron | NP_001180542.1 | |||
NM_016261.3 | 253 | Intron | NP_057345.2 | |||
XM_005257425.1 | 253 | Intron | XP_005257482.1 | |||
XM_011524871.2 | 253 | Intron | XP_011523173.1 | |||
XM_017024716.1 | 253 | Intron | XP_016880205.1 | |||
XM_017024717.1 | 253 | Intron | XP_016880206.1 | |||
XM_017024718.1 | 253 | Intron | XP_016880207.1 | |||
XM_017024719.1 | 253 | Intron | XP_016880208.1 | |||
XM_017024720.1 | 253 | Intron | XP_016880209.1 |