Product Details

SNP ID
rs148896213
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43884304 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTCCAGGCCCCGAGTGCCAGAAGC[C/G]GGCCCACCGGCTGGGATCCCTCGTA
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_001177675.1 782 Missense Mutation CGC,GGC R217G NP_001171146.1
NM_138814.3 782 Missense Mutation CGC,GGC R331G NP_620169.1
XM_011529959.2 782 Missense Mutation CGC,GGC R191G XP_011528261.1

View Full Product Details