Product Details

SNP ID
rs56376112
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:59893319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGCGGGCTCTGAGGATGAGCTGGA[A/G]GAGGGGGTGAGGCCCGGGGTCCCCG
Phenotype
MIM: 608938 MIM: 607344
Polymorphism
A/G, Transition 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_001272042.1 274 Silent Mutation GAA,GAG E45E NP_001258971.1
NM_001272043.1 274 Silent Mutation GAA,GAG E45E NP_001258972.1
NM_001272044.1 274 UTR 5 NP_001258973.1
NM_001272060.1 274 Silent Mutation GAA,GAG E22E NP_001258989.1
NM_003161.3 274 Silent Mutation GAA,GAG E45E NP_003152.1
XM_011525101.2 274 Silent Mutation GAA,GAG E45E XP_011523403.1
XM_011525102.2 274 Silent Mutation GAA,GAG E45E XP_011523404.1
XM_011525103.2 274 UTR 5 XP_011523405.1
XM_017024929.1 274 UTR 5 XP_016880418.1
XM_017024930.1 274 UTR 5 XP_016880419.1
XM_017024931.1 274 UTR 5 XP_016880420.1
XM_017024932.1 274 UTR 5 XP_016880421.1
XM_017024933.1 274 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_001193609.1 274 Intron NP_001180538.1
NM_001193610.1 274 Intron NP_001180539.1
NM_001193611.1 274 Intron NP_001180540.1
NM_001193612.1 274 Intron NP_001180541.1
NM_001193613.1 274 Intron NP_001180542.1
NM_016261.3 274 Intron NP_057345.2
XM_005257425.1 274 Intron XP_005257482.1
XM_011524871.2 274 Intron XP_011523173.1
XM_017024716.1 274 Intron XP_016880205.1
XM_017024717.1 274 Intron XP_016880206.1
XM_017024718.1 274 Intron XP_016880207.1
XM_017024719.1 274 Intron XP_016880208.1
XM_017024720.1 274 Intron XP_016880209.1

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