Product Details

SNP ID
rs185938499
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:7902096 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAGATGGTTACTGTCCGGCCGA[C/T]GGGCAGGATGGGAAGAGCGTTGGTG
Phenotype
MIM: 300102
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PNPLA4 PubMed Links

Gene Details

Gene
PNPLA4
Gene Name
patatin like phospholipase domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142389.1 590 Missense Mutation CTC,TTC L175F NP_001135861.1
NM_001172672.1 590 Missense Mutation CTC,TTC L88F NP_001166143.1
NM_004650.2 590 Missense Mutation CTC,TTC L175F NP_004641.1
XM_011545588.1 590 Missense Mutation CTC,TTC L175F XP_011543890.1

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