Product Details

SNP ID
rs112141056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4844728 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCTTCTGGTTCCAGCTGAGCCA[C/T]ATCTGGTGCAGCTTCTCCTGGCCTT
Phenotype
MIM: 602702
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLIN3 PubMed Links

Gene Details

Gene
PLIN3
Gene Name
perilipin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164189.1 1077 Missense Mutation ATA,ATG I300M NP_001157661.1
NM_001164194.1 1077 Missense Mutation ATA,ATG I288M NP_001157666.1
NM_005817.4 1077 Missense Mutation ATA,ATG I300M NP_005808.3

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