Product Details

SNP ID
rs192313487
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:150546114 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCTGTGCTTCTCGTTGGCCATAC[C/G]GATCCTTTGCTTGGCGACCATCTTC
Phenotype
MIM: 609234
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
EIF2A PubMed Links

Gene Details

Gene
EIF2A
Gene Name
eukaryotic translation initiation factor 2A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319043.1 1193 Intron NP_001305972.1
NM_001319044.1 1193 Intron NP_001305973.1
NM_001319045.1 1193 Intron NP_001305974.1
NM_001319046.1 1193 Intron NP_001305975.1
NM_032025.4 1193 Intron NP_114414.2
XM_011513224.1 1193 Intron XP_011511526.1
Gene
SERP1
Gene Name
stress-associated endoplasmic reticulum protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014445.3 1193 Missense Mutation CGT,GGT R8G NP_055260.1
XM_011512698.2 1193 Missense Mutation CGT,GGT R8G XP_011511000.1

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