Product Details

SNP ID

rs6692487

Assay Type

Functionally tested

NCBI dbSNP Submissions

36

Location

Chr.1:44851720 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGAAATGAGGCTAAAAGGATAAAC[A/G]GAGATAAGAAAGGGCAATACCTCAT

Phenotype

MIM: 606273 MIM: 603673

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EIF2B3 PubMed Links

Gene Details

Gene

EIF2B3

Gene Name

eukaryotic translation initiation factor 2B subunit gamma

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166588.2		Intron			NP_001160060.1
NM_001261418.1		Intron			NP_001248347.1
NM_020365.4		Intron			NP_065098.1
XM_017002745.1		Intron			XP_016858234.1
XM_017002746.1		Intron			XP_016858235.1
XM_017002747.1		Intron			XP_016858236.1

Gene

PTCH2

Gene Name

patched 2

There are no transcripts associated with this gene.

View Full Product Details