Product Details

SNP ID
rs200098679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:39939578 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGTGAAGAAGTATATGTAAAAG[C/T]GGATTTGAGGGTTAAATGCCCACCT
Phenotype
MIM: 609280
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EIF2AK4 PubMed Links

Gene Details

Gene
EIF2AK4
Gene Name
eukaryotic translation initiation factor 2 alpha kinase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013703.3 313 Missense Mutation GCG,GTG A73V NP_001013725.2
XM_005254392.2 313 Missense Mutation GCG,GTG A73V XP_005254449.1
XM_011521599.2 313 Missense Mutation GCG,GTG A73V XP_011519901.1
XM_011521600.2 313 Missense Mutation GCG,GTG A73V XP_011519902.1
XM_017022219.1 313 Missense Mutation GCG,GTG A73V XP_016877708.1

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