Product Details

SNP ID
rs75014204
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:36300804 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTACTTGAGGTGGTTGAACTTTT[C/T]TTCTTTTTCCAGAAAAGCTCTAGAT
Phenotype
MIM: 609431
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MBIP PubMed Links

Gene Details

Gene
MBIP
Gene Name
MAP3K12 binding inhibitory protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144891.1 827 Missense Mutation AAA,AGA K303R NP_001138363.1
NM_001308110.1 827 Silent Mutation AAA,AAG K270K NP_001295039.1
NM_016586.2 827 Missense Mutation AAA,AGA K303R NP_057670.2
XM_005267754.3 827 Missense Mutation AAA,AGA K281R XP_005267811.1
XM_005267756.4 827 Silent Mutation AAA,AAG K270K XP_005267813.1
XM_017021367.1 827 Silent Mutation AAA,AAG K248K XP_016876856.1

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