Product Details

SNP ID
rs140360713
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:761055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGACAGTGCAGATTGCAGAAGT[A/C]CGCGGACGAGAAGAGCCGCAGCACG
Phenotype
MIM: 613350
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
SLC52A3 PubMed Links

Gene Details

Gene
SLC52A3
Gene Name
solute carrier family 52 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033409.3 1720 Missense Mutation GAC,TAC D461Y NP_212134.3
XM_005260655.3 1720 Missense Mutation GAC,TAC D461Y XP_005260712.1
XM_011529148.1 1720 Missense Mutation GAC,TAC D461Y XP_011527450.1

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