Product Details

SNP ID
rs200063119
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:43884303 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCCAGGCCCCGAGTGCCAGAAG[C/T]GGGCCCACCGGCTGGGATCCCTCGT
Phenotype
MIM: 611589
Polymorphism
C/T, 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_001177675.1 783 Missense Mutation CAC,CGC H217R NP_001171146.1
NM_138814.3 783 Missense Mutation CAC,CGC H331R NP_620169.1
XM_011529959.2 783 Missense Mutation CAC,CGC H191R XP_011528261.1

View Full Product Details