Product Details

SNP ID

rs139134121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27364891 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGCATGAGCTCCCAATAGCACC[C/T]TGGAAACCTGTTTCACAGGAGAAGA

Phenotype

MIM: 606687 MIM: 604883 MIM: 605963

Polymorphism

C/T, 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	1339	Missense Mutation	AAG,AGG	K400R	NP_001029288.1
NM_001318965.1	1339	Missense Mutation	AAG,AGG	K421R	NP_001305894.1
NM_001318966.1	1339	Missense Mutation	AAG,AGG	K385R	NP_001305895.1
NM_001318967.1	1339	Missense Mutation	AAG,AGG	K369R	NP_001305896.1
NM_001318968.1	1339	Missense Mutation	AAG,AGG	K205R	NP_001305897.1
NM_001318969.1	1339	Missense Mutation	AAG,AGG	K194R	NP_001305898.1
NM_015636.3	1339	Missense Mutation	AAG,AGG	K399R	NP_056451.3
NM_172195.3	1339	Missense Mutation	AAG,AGG	K420R	NP_751945.2
XM_006712132.1	1339	Missense Mutation	AAG,AGG	K384R	XP_006712195.1
XM_011533147.2	1339	Missense Mutation	AAG,AGG	K194R	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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