Product Details

SNP ID

rs141748678

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184136644 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCCTGGCCAATGTGGCATTAAT[G/T]GACTACACTCTGGAATTCCTGACTG

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	592	Missense Mutation	ATG,ATT	M76I	NP_003898.2
XM_011513265.1	592	Intron			XP_011511567.1
XM_011513266.2	592	UTR 5			XP_011511568.1

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