Product Details

SNP ID

rs201912801

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:75003671 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAACTCCAGTCCAACATCATTGA[G/T]GCGATTAATGAGCTGCTAGTGGAGC

Phenotype

MIM: 606454

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EIF2B2 PubMed Links

Gene Details

Gene

EIF2B2

Gene Name

eukaryotic translation initiation factor 2B subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014239.3	487	Missense Mutation	GAG,GAT	E135D	NP_055054.1

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