Product Details

SNP ID
rs78367243
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143215394 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAATGTCCCACCCTGGCAAAGCT[C/T]CCGAGTCCAGGACCCAACAGGCAAG
Phenotype
MIM: 612757
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GPIHBP1 PubMed Links

Gene Details

Gene
GPIHBP1
Gene Name
glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301772.1 506 Intron NP_001288701.1
NM_178172.5 506 Missense Mutation TCC,TTC S144F NP_835466.2

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