Product Details

SNP ID

rs2076212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:43927090 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCACCAGCTCATCTCCGGCAAAATA[G/T]GCATCTCTCTTACCAGAGTGTCTGA

Phenotype

MIM: 609567

Polymorphism

G/T, Transversion 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	516	Missense Mutation	GGC,TGC	G115C	NP_079501.2

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