Product Details

SNP ID
rs201221697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43924056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGCATGTTGTTCGGCGCTTCGGCC[A/G]GGGCGTTGCACTGCGTCGGCGTCCT
Phenotype
MIM: 609567
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PNPLA3 PubMed Links

Gene Details

Gene
PNPLA3
Gene Name
patatin like phospholipase domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_025225.2 318 Missense Mutation AGG,GGG R49G NP_079501.2

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