Product Details

SNP ID

rs200954953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27367126 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTACTGATCTTCTGGTAAGCAAAGC[A/G]TGAAATTGCCTGAGCTGCTAGCACA

Phenotype

MIM: 606687 MIM: 605963

Polymorphism

A/G, 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	1101	Missense Mutation	CGC,TGC	R321C	NP_001029288.1
NM_001318965.1	1101	Missense Mutation	CGC,TGC	R342C	NP_001305894.1
NM_001318966.1	1101	Missense Mutation	CGC,TGC	R306C	NP_001305895.1
NM_001318967.1	1101	Missense Mutation	CGC,TGC	R290C	NP_001305896.1
NM_001318968.1	1101	Missense Mutation	CGC,TGC	R126C	NP_001305897.1
NM_001318969.1	1101	Missense Mutation	CGC,TGC	R115C	NP_001305898.1
NM_015636.3	1101	Missense Mutation	CGC,TGC	R320C	NP_056451.3
NM_172195.3	1101	Missense Mutation	CGC,TGC	R341C	NP_751945.2
XM_006712132.1	1101	Missense Mutation	CGC,TGC	R305C	XP_006712195.1
XM_011533147.2	1101	Missense Mutation	CGC,TGC	R115C	XP_011531449.1

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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