Product Details

SNP ID
rs77813683
Assay Type
Functionally Tested
NCBI dbSNP Submissions
12
Location
Chr.1:184692639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTATGTCTCTTAAATATTCCTTTA[G/T]AACAAATTCAGGCAAGTTTAAAAAA
Phenotype
MIM: 610214
Polymorphism
G/T, 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 4484 UTR 3 NP_001306889.1
NM_025191.3 4484 UTR 3 NP_079467.3
XM_005245499.1 4484 UTR 3 XP_005245556.1
XM_011510012.1 4484 UTR 3 XP_011508314.1
XM_011510013.2 4484 Intron XP_011508315.1
XM_011510014.2 4484 Intron XP_011508316.1
XM_017002397.1 4484 UTR 3 XP_016857886.1
XM_017002398.1 4484 Intron XP_016857887.1

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