Product Details

SNP ID
rs200103565
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:49565334 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCAGATAAGCTCCACAAACCC[A/C]AAGCTACACAGACTGAGGTCAAACC
Phenotype
MIM: 603684
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LIPG PubMed Links

Gene Details

Gene
LIPG
Gene Name
lipase G, endothelial type
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308006.1 423 Missense Mutation AAA,CAA K39Q NP_001294935.1
NM_006033.3 423 Missense Mutation AAA,CAA K39Q NP_006024.1
XM_005258390.1 423 Missense Mutation AAA,CAA K75Q XP_005258447.1
XM_011526265.2 423 Missense Mutation AAA,CAA K75Q XP_011524567.1
XM_011526267.1 423 UTR 5 XP_011524569.1
XM_017026095.1 423 UTR 5 XP_016881584.1

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