Product Details

SNP ID

rs104894427

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:75004850 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGCCTTCCTCAAAGAGGCTGCC[C/T]GAAAGAGGAAATTCCATGTCATTGT

Phenotype

MIM: 606454 MIM: 604395

Polymorphism

C/T, Transition 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	629	Nonsense Mutation	CGA,TGA	R183*	NP_055054.1

Gene

MLH3

Gene Name

mutL homolog 3

There are no transcripts associated with this gene.

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