Product Details

SNP ID
rs6088720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:35117710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGAATTCCATACCCCAACACTGTA[A/G]GCTTTTCAGGGGATTTTCTTCCAGA
Phenotype
MIM: 610302
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EDEM2 PubMed Links

Gene Details

Gene
EDEM2
Gene Name
ER degradation enhancing alpha-mannosidase like protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145025.1 Intron NP_001138497.1
NM_018217.2 Intron NP_060687.2

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