Product Details

SNP ID

rs72561715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:19116591 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTTGGACAGGAGGGTGTGGCAC[G/A]TGGTCTGGAGCTGCTGAGTCAGGTT

Phenotype

MIM: 103195

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

PLIN2 PubMed Links

Gene Details

Gene

PLIN2

Gene Name

perilipin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001122.3	993	Intron			NP_001113.2
XM_017014259.1	993	Missense Mutation	ACG,ATG	T324M	XP_016869748.1

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