Product Details

SNP ID
rs142457377
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43881579 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACCTGATGGGCCCAAGGAGCTGG[C/G]CCTTGGTCCTGGAGAAAACCTCGAG
Phenotype
MIM: 611589
Polymorphism
C/G, Transversion 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_001177675.1 969 Missense Mutation GCC,GGC A279G NP_001171146.1
NM_138814.3 969 Missense Mutation GCC,GGC A393G NP_620169.1
XM_011529959.2 969 Missense Mutation GCC,GGC A253G XP_011528261.1

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