Product Details

SNP ID
hCV2383135
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1207121 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGTGAAGGAGGTGCTGGACTCG[G/T]AGACGCTGTGCAGGAGGGCCGTCAA
Phenotype
MIM: 602216
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
STK11 PubMed Links

Gene Details

Gene
STK11
Gene Name
serine/threonine kinase 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000455.4 1323 Nonsense Mutation GAG,TAG E70* NP_000446.1

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