Product Details

SNP ID
rs146129461
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:88558963 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATAATGGTGGAAATTTGAGATTT[A/C]TTACATCAGTTAAGGTCTAAAAAGA
Phenotype
MIM: 604032
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EIF2AK3 PubMed Links

Gene Details

Gene
EIF2AK3
Gene Name
eukaryotic translation initiation factor 2 alpha kinase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001313915.1 3406 Missense Mutation AGA,ATA R884I NP_001300844.1
NM_004836.6 3406 Missense Mutation AGA,ATA R1035I NP_004827.4
XM_017005376.1 3406 Missense Mutation AGA,ATA R807I XP_016860865.1
Gene
LOC101928371
Gene Name
uncharacterized LOC101928371
There are no transcripts associated with this gene.

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