Product Details

SNP ID

rs3746429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35115804 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACTCCCCATAGGGGGTGATCACCG[C/T]GTCGAAGGTGGACCCATTGTTGTGG

Phenotype

MIM: 610302

Polymorphism

C/T, 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	1355	Missense Mutation	ACG,GCG	T419A	NP_001138497.1
NM_018217.2	1355	Missense Mutation	ACG,GCG	T456A	NP_060687.2

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