Product Details

SNP ID
rs1803532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:34089827 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAACATCTAGAATGACAAGTTTCG[T/C]ACTGTAGGAAATAGAGTCGTGTGTC
Phenotype
MIM: 603908 MIM: 614663
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
EIF2S2 PubMed Links

Gene Details

Gene
EIF2S2
Gene Name
eukaryotic translation initiation factor 2 subunit beta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316363.1 1151 Missense Mutation TAC,TGC Y299C NP_001303292.1
NM_001316364.1 1151 Missense Mutation TAC,TGC Y283C NP_001303293.1
NM_003908.4 1151 Missense Mutation TAC,TGC Y302C NP_003899.2
XM_017028118.1 1151 Missense Mutation TAC,TGC Y297C XP_016883607.1
Gene
RALY
Gene Name
RALY heterogeneous nuclear ribonucleoprotein
There are no transcripts associated with this gene.

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