Product Details

SNP ID

rs9425343

Assay Type

Functionally tested

NCBI dbSNP Submissions

83

Location

Chr.1:184694403 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCAACCTCCTGAGAACTTGATGAA[A/C]TCTGTTCACCACTCTGATTCTGAGA

Phenotype

MIM: 610214

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EDEM3 PubMed Links

Gene Details

Gene

EDEM3

Gene Name

ER degradation enhancing alpha-mannosidase like protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319960.1	2720	Missense Mutation	AGT,ATT	S836I	NP_001306889.1
NM_025191.3	2720	Missense Mutation	AGT,ATT	S820I	NP_079467.3
XM_005245499.1	2720	Missense Mutation	AGT,ATT	S821I	XP_005245556.1
XM_011510012.1	2720	Missense Mutation	AGT,ATT	S744I	XP_011508314.1
XM_011510013.2	2720	Intron			XP_011508315.1
XM_011510014.2	2720	Intron			XP_011508316.1
XM_017002397.1	2720	Missense Mutation	AGT,ATT	S743I	XP_016857886.1
XM_017002398.1	2720	Intron			XP_016857887.1

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