Product Details

SNP ID
rs200955904
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:59893298 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGACCTGGACCAGCCAGAGGACGC[C/G]GGCTCTGAGGATGAGCTGGAGGAGG
Phenotype
MIM: 608938 MIM: 607344
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
RPS6KB1 PubMed Links

Gene Details

Gene
RPS6KB1
Gene Name
ribosomal protein S6 kinase B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272042.1 253 Silent Mutation GCC,GCG A38A NP_001258971.1
NM_001272043.1 253 Silent Mutation GCC,GCG A38A NP_001258972.1
NM_001272044.1 253 UTR 5 NP_001258973.1
NM_001272060.1 253 Silent Mutation GCC,GCG A15A NP_001258989.1
NM_003161.3 253 Silent Mutation GCC,GCG A38A NP_003152.1
XM_011525101.2 253 Silent Mutation GCC,GCG A38A XP_011523403.1
XM_011525102.2 253 Silent Mutation GCC,GCG A38A 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
Gene
TUBD1
Gene Name
tubulin delta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change 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

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