Product Details

SNP ID
rs112135490
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:38468300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCATGATCTTGCTGCTGGGGAAG[A/G]TCTGGAGGTCCAAGTGCTGCAAGGG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KDELR3 PubMed Links

Gene Details

Gene
KDELR3
Gene Name
KDEL endoplasmic reticulum protein retention receptor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006855.3 239 Missense Mutation ATC,GTC I23V NP_006846.1
NM_016657.2 239 Missense Mutation ATC,GTC I23V NP_057839.1

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