Product Details

SNP ID
rs147010013
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:238061070 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGCGGGGATGGAGGCGGCCGTG[A/G]CGCCGGGGAGGGATGCGCCGGCACC
Phenotype
MIM: 611056
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SCLY PubMed Links

Gene Details

Gene
SCLY
Gene Name
selenocysteine lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016510.5 147 Missense Mutation ACG,GCG T14A NP_057594.4
Gene
UBE2F-SCLY
Gene Name
UBE2F-SCLY readthrough (NMD candidate)
There are no transcripts associated with this gene.

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