Product Details

SNP ID

rs200538775

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:88570886 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAAAACTCACCTGCTCTGGGCT[C/G]ATATACAGTTTGGTCCCTACTTGTC

Phenotype

MIM: 604032

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EIF2AK3 PubMed Links

Gene Details

Gene

EIF2AK3

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001313915.1	3275	Missense Mutation	ATC,ATG	I840M	NP_001300844.1
NM_004836.6	3275	Missense Mutation	ATC,ATG	I991M	NP_004827.4
XM_017005376.1	3275	Missense Mutation	ATC,ATG	I763M	XP_016860865.1

Gene

LOC101928371

Gene Name

uncharacterized LOC101928371

There are no transcripts associated with this gene.

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