Product Details

SNP ID
rs190597799
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:186296882 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACGGTACCTGAAAACAACGATGGCA[C/T]GGAAAACACTTCCCATTTACCTGTT
Phenotype
MIM: 604283
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PRG4 PubMed Links

Gene Details

Gene
PRG4
Gene Name
proteoglycan 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127708.2 58 Missense Mutation CGG,TGG R3W NP_001121180.2
NM_001127709.2 58 Missense Mutation CGG,TGG R3W NP_001121181.2
NM_001127710.2 58 Missense Mutation CGG,TGG R3W NP_001121182.2
NM_001303232.1 58 Missense Mutation CGG,TGG R3W NP_001290161.1
NM_005807.4 58 Missense Mutation CGG,TGG R3W NP_005798.3
XM_017000002.1 58 Missense Mutation CGG,TGG R3W XP_016855491.1
XM_017000003.1 58 Missense Mutation CGG,TGG R3W XP_016855492.1

View Full Product Details