Product Details

SNP ID

rs113994039

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27364525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATCATAGACTAGATTCAACAACC[G/A]TAGGGATGCGTGGTTCTGCCAGTTA

Phenotype

MIM: 606687 MIM: 604883 MIM: 605963

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

EIF2B4 PubMed Links

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	1587	Missense Mutation	CGG,TGG	R483W	NP_001029288.1
NM_001318965.1	1587	Missense Mutation	CGG,TGG	R504W	NP_001305894.1
NM_001318966.1	1587	Missense Mutation	CGG,TGG	R468W	NP_001305895.1
NM_001318967.1	1587	Missense Mutation	CGG,TGG	R452W	NP_001305896.1
NM_001318968.1	1587	Missense Mutation	CGG,TGG	R288W	NP_001305897.1
NM_001318969.1	1587	Missense Mutation	CGG,TGG	R277W	NP_001305898.1
NM_015636.3	1587	Missense Mutation	CGG,TGG	R482W	NP_056451.3
NM_172195.3	1587	Missense Mutation	CGG,TGG	R503W	NP_751945.2
XM_006712132.1	1587	Missense Mutation	CGG,TGG	R467W	XP_006712195.1
XM_011533147.2	1587	Missense Mutation	CGG,TGG	R277W	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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