Product Details

SNP ID
rs138698098
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:11948035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCGAGGGATTCCGTCGCTTCAAG[C/T]GCTCAGCTCAGTTCTTCAACTACAA
Phenotype
MIM: 153454
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PLOD1 PubMed Links

Gene Details

Gene
PLOD1
Gene Name
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000302.3 390 Missense Mutation CGC,TGC R46C NP_000293.2
NM_001316320.1 390 Missense Mutation CGC,TGC R93C NP_001303249.1

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