Product Details

SNP ID

rs11572942

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:123643776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTTTATTTATATTGTCACTTTT[C/T]GCCAATTAGAAATTTTAATAGATTT

Phenotype

MIM: 606686 MIM: 601750

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EIF2B1 PubMed Links

Gene Details

Gene

EIF2B1

Gene Name

eukaryotic translation initiation factor 2B subunit alpha

There are no transcripts associated with this gene.

Gene

GTF2H3

Gene Name

general transcription factor IIH subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271866.1		Intron			NP_001258795.1
NM_001271867.1		Intron			NP_001258796.1
NM_001271868.1		Intron			NP_001258797.1
NM_001516.4		Intron			NP_001507.2
XM_017019228.1		Intron			XP_016874717.1

View Full Product Details