Product Details

SNP ID
rs199834186
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:37107289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGGGCTCTAACATGTGTGTCGT[C/T]CATTTTTCTCTGGGCTTTTCTTCCA
Phenotype
MIM: 176871
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EIF2AK2 PubMed Links

Gene Details

Gene
EIF2AK2
Gene Name
eukaryotic translation initiation factor 2 alpha kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135651.2 1897 Missense Mutation GAA,GGA E547G NP_001129123.1
NM_001135652.2 1897 Missense Mutation GAA,GGA E506G NP_001129124.1
NM_002759.3 1897 Missense Mutation GAA,GGA E547G NP_002750.1
XM_011532987.2 1897 Missense Mutation GAA,GGA E547G XP_011531289.1
XM_017004503.1 1897 Missense Mutation GAA,GGA E504G XP_016859992.1
Gene
GPATCH11
Gene Name
G-patch domain containing 11
There are no transcripts associated with this gene.

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