Product Details

SNP ID
rs116672991
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:44850550 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCAGCTAGGCCTATGGGTCTAG[A/G]AAGGCTGATTAGGATAAGGGACTGA
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 1999 Intron NP_001160060.1
NM_001261418.1 1999 UTR 3 NP_001248347.1
NM_020365.4 1999 UTR 3 NP_065098.1
XM_017002745.1 1999 Intron XP_016858234.1
XM_017002746.1 1999 Intron XP_016858235.1
XM_017002747.1 1999 Intron XP_016858236.1
Gene
PTCH2
Gene Name
patched 2
There are no transcripts associated with this gene.

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