Product Details

SNP ID
rs181818400
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43884270 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGTGCAGGGTAGCAGCAGGTAC[A/G]TCAGCACCTGTCCAGGCCCCGAGTG
Phenotype
MIM: 611589
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PNPLA5 PubMed Links

Gene Details

Gene
PNPLA5
Gene Name
patatin like phospholipase domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177675.1 816 Missense Mutation ACG,ATG T228M NP_001171146.1
NM_138814.3 816 Missense Mutation ACG,ATG T342M NP_620169.1
XM_011529959.2 816 Missense Mutation ACG,ATG T202M XP_011528261.1

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