Product Details

SNP ID
rs138978618
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:182575552 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAAATGTCTTCTGAAAATACAGG[A/G]AAGGGTCTCCAATTTTTAATTTCAT
Phenotype
MIM: 180435
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RNASEL PubMed Links

Gene Details

Gene
RNASEL
Gene Name
ribonuclease L
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021133.3 2323 Missense Mutation TCC,TTC S689F NP_066956.1

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