Product Details

SNP ID
rs180794356
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30444485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAACTCGCGGCTTGTCAATGATCC[C/G]GGCCGTTCGGTTTCCCTTTTCCACA
Phenotype
MIM: 606218
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SEPHS2 PubMed Links

Gene Details

Gene
SEPHS2
Gene Name
selenophosphate synthetase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012248.3 1491 Missense Mutation CGG,GGG R415G NP_036380.2

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