Product Details

SNP ID

rs113994043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184135551 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGGCCGATAGCTTCGATCGCCGC[G/T]TCTTCCCCATCTCCAAGGACCAGCC

Phenotype

MIM: 603945

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EIF2B5 PubMed Links

Gene Details

Gene

EIF2B5

Gene Name

eukaryotic translation initiation factor 2B subunit epsilon

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003907.2	530	Missense Mutation	GTC,TTC	V56F	NP_003898.2
XM_011513265.1	530	Intron			XP_011511567.1
XM_011513266.2	530	Intron			XP_011511568.1

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