Product Details

SNP ID

rs113994036

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27366778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTACCTCTGGGAGCACATAGGAG[T/G]CTGCAGGAATCAGCAGGTAGGAGGC

Phenotype

MIM: 606687 MIM: 604883 MIM: 605963

Polymorphism

T/G, Transversion Substitution

Allele Nomenclature

Literature Links

EIF2B4 PubMed Links

Additional Information

For this assay, SNP(s) [rs140057104] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EIF2B4

Gene Name

eukaryotic translation initiation factor 2B subunit delta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034116.1	1312	Missense Mutation	GGC,GTC	G391V	NP_001029288.1
NM_001318965.1	1312	Missense Mutation	GGC,GTC	G412V	NP_001305894.1
NM_001318966.1	1312	Missense Mutation	GGC,GTC	G376V	NP_001305895.1
NM_001318967.1	1312	Missense Mutation	GGC,GTC	G360V	NP_001305896.1
NM_001318968.1	1312	Missense Mutation	GGC,GTC	G196V	NP_001305897.1
NM_001318969.1	1312	Missense Mutation	GGC,GTC	G185V	NP_001305898.1
NM_015636.3	1312	Missense Mutation	GGC,GTC	G390V	NP_056451.3
NM_172195.3	1312	Missense Mutation	GGC,GTC	G411V	NP_751945.2
XM_006712132.1	1312	Missense Mutation	GGC,GTC	G375V	XP_006712195.1
XM_011533147.2	1312	Missense Mutation	GGC,GTC	G185V	XP_011531449.1

Gene

GTF3C2

Gene Name

general transcription factor IIIC subunit 2

There are no transcripts associated with this gene.

Gene

LOC105374363

Gene Name

uncharacterized LOC105374363

There are no transcripts associated with this gene.

Gene

SNX17

Gene Name

sorting nexin 17

There are no transcripts associated with this gene.

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