Product Details

SNP ID
rs200188532
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:182576301 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGTGTTCTCCCAAATTCCGGATG[A/C]ACTTTAGCAGATCACCCACAGTGTT
Phenotype
MIM: 180435
Polymorphism
A/C, Transversion 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 2251 Missense Mutation TGC,TTC C665F NP_066956.1

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