Product Details

SNP ID

rs142693254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4839442 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCACCTGGTCCTTCACATTGGTG[A/G]GGAGGCCCTGAATGCTGGACCCCAG

Phenotype

MIM: 602702 MIM: 607601

Polymorphism

A/G, 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	1232	Missense Mutation	CCC,CTC	P351L	NP_001157661.1
NM_001164194.1	1232	Missense Mutation	CCC,CTC	P340L	NP_001157666.1
NM_005817.4	1232	Missense Mutation	CCC,CTC	P352L	NP_005808.3

Gene

TICAM1

Gene Name

toll like receptor adaptor molecule 1

There are no transcripts associated with this gene.

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