Product Details

SNP ID

rs2307469

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:37109260 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

CAGCAAGAATTAGCCCCAAAGCGTA[C/G]AGGTCCACTTCCTTTCCATAGTCTT

Phenotype

MIM: 176871

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EIF2AK2 PubMed Links

Gene Details

Gene

EIF2AK2

Gene Name

eukaryotic translation initiation factor 2 alpha kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135651.2	1670	Silent Mutation	CTC,CTG	L471L	NP_001129123.1
NM_001135652.2	1670	Silent Mutation	CTC,CTG	L430L	NP_001129124.1
NM_002759.3	1670	Silent Mutation	CTC,CTG	L471L	NP_002750.1
XM_011532987.2	1670	Silent Mutation	CTC,CTG	L471L	XP_011531289.1
XM_017004503.1	1670	Silent Mutation	CTC,CTG	L428L	XP_016859992.1

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