Product Details

SNP ID

rs112715569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35115718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTCAGCCTCTGGCAGCAGTGCAG[A/G]GCGGCAGGGTCGATGGGGTGAGCTT

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	1441	Silent Mutation	GCC,GCT	A447A	NP_001138497.1
NM_018217.2	1441	Silent Mutation	GCC,GCT	A484A	NP_060687.2

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