Product Details

SNP ID
rs115504695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53481220 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGCTGGGGGCCGCAAGGCATCAA[C/T]GCTGTTGGAGTTGTCCAATTCAGTG
Phenotype
MIM: 600447 MIM: 601210
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MAP3K12 PubMed Links

Gene Details

Gene
MAP3K12
Gene Name
mitogen-activated protein kinase kinase kinase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193511.1 2840 Missense Mutation ATT,GTT I881V NP_001180440.1
NM_006301.3 2840 Missense Mutation ATT,GTT I848V NP_006292.3
XM_005269138.3 2840 Missense Mutation ATT,GTT I881V XP_005269195.1
XM_005269140.2 2840 Intron XP_005269197.1
XM_006719588.3 2840 Missense Mutation ATT,GTT I881V XP_006719651.1
XM_011538725.2 2840 Missense Mutation ATT,GTT I881V XP_011537027.1
XM_017019956.1 2840 Missense Mutation ATT,GTT I848V XP_016875445.1
Gene
PCBP2
Gene Name
poly(rC) binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098620.2 2840 Intron NP_001092090.1
NM_001128911.1 2840 Intron NP_001122383.1
NM_001128912.1 2840 Intron NP_001122384.1
NM_001128913.1 2840 Intron NP_001122385.1
NM_001128914.1 2840 Intron NP_001122386.1
NM_005016.5 2840 Intron NP_005007.2
NM_031989.4 2840 Intron NP_114366.1

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