Product Details

SNP ID

rs199805758

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:150552370 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTCTTTAGTCCGAGGATCAGAA[A/G]GACTGTACATGGTGAATGGACCACC

Phenotype

MIM: 609234

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF2A PubMed Links

Gene Details

Gene

EIF2A

Gene Name

eukaryotic translation initiation factor 2A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319043.1	168	Missense Mutation	AGA,GGA	R15G	NP_001305972.1
NM_001319044.1	168	Missense Mutation	AGA,GGA	R15G	NP_001305973.1
NM_001319045.1	168	Missense Mutation	AGA,GGA	R15G	NP_001305974.1
NM_001319046.1	168	UTR 5			NP_001305975.1
NM_032025.4	168	Missense Mutation	AGA,GGA	R15G	NP_114414.2
XM_011513224.1	168	Missense Mutation	AGA,GGA	R15G	XP_011511526.1

Gene

SERP1

Gene Name

stress-associated endoplasmic reticulum protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014445.3	168	Intron			NP_055260.1
XM_011512698.2	168	Intron			XP_011511000.1

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