Product Details

SNP ID
rs143967615
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64790230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATCAAAGGTCAGCTCAGGTGCCA[C/G]TGTGGCCGTGGGCTCGCCCTGCATG
Phenotype
MIM: 603166
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MAP4K2 PubMed Links

Gene Details

Gene
MAP4K2
Gene Name
mitogen-activated protein kinase kinase kinase kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307990.1 2149 Missense Mutation CTG,GTG L728V NP_001294919.1
NM_004579.4 2149 Missense Mutation CTG,GTG L736V NP_004570.2
XM_011545203.2 2149 Missense Mutation CTG,GTG L713V XP_011543505.1
XM_011545204.2 2149 Missense Mutation CTG,GTG L692V XP_011543506.1
XM_017018093.1 2149 Missense Mutation CTG,GTG L684V XP_016873582.1
XM_017018094.1 2149 Missense Mutation CTG,GTG L559V XP_016873583.1
XM_017018095.1 2149 Missense Mutation CTG,GTG L536V XP_016873584.1
XM_017018096.1 2149 Intron XP_016873585.1

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