Product Details

SNP ID
rs175052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:75018703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGAGGCTTTATGTGAAACTTCCA[A/G]TGCAGATTTTGCAAAACTCTCCTAT
Phenotype
MIM: 606454 MIM: 604395
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EIF2B2 PubMed Links

Gene Details

Gene
EIF2B2
Gene Name
eukaryotic translation initiation factor 2B subunit beta
There are no transcripts associated with this gene.

Gene
MLH3
Gene Name
mutL homolog 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040108.1 Intron NP_001035197.1
NM_014381.2 Intron NP_055196.2
XM_005267532.4 Intron XP_005267589.1
XM_005267533.4 Intron XP_005267590.1
XM_005267534.2 Intron XP_005267591.1
XM_006720116.3 Intron XP_006720179.1
XM_011536646.2 Intron XP_011534948.1
XM_011536648.2 Intron XP_011534950.1
XM_017021219.1 Intron XP_016876708.1

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