Product Details

SNP ID
rs149876591
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:53482188 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGCTGAAGGTAGATAGTGACTGG[C/T]GCATGTTCAGGCTCTGAGGCCACCT
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 2532 Missense Mutation CAC,CGC H778R NP_001180440.1
NM_006301.3 2532 Missense Mutation CAC,CGC H745R NP_006292.3
XM_005269138.3 2532 Missense Mutation CAC,CGC H778R XP_005269195.1
XM_005269140.2 2532 Intron XP_005269197.1
XM_006719588.3 2532 Missense Mutation CAC,CGC H778R XP_006719651.1
XM_011538725.2 2532 Missense Mutation CAC,CGC H778R XP_011537027.1
XM_017019956.1 2532 Missense Mutation CAC,CGC H745R XP_016875445.1
Gene
PCBP2
Gene Name
poly(rC) binding protein 2
There are no transcripts associated with this gene.

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