Product Details

SNP ID
rs141044991
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:186312785 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTTACAGGTGTCCTTCATAATGA[A/C]GTTAAAGTGAGTATACTGTGGAGAG
Phenotype
MIM: 604283 MIM: 189940
Polymorphism
A/C, Transversion 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 3780 Missense Mutation GAA,GAC E1295D NP_001121180.2
NM_001127709.2 3780 Missense Mutation GAA,GAC E1243D NP_001121181.2
NM_001127710.2 3780 Missense Mutation GAA,GAC E1202D NP_001121182.2
NM_001303232.1 3780 Missense Mutation GAA,GAC E1293D NP_001290161.1
NM_005807.4 3780 Missense Mutation GAA,GAC E1336D NP_005798.3
XM_017000002.1 3780 Missense Mutation GAA,GAC E1243D XP_016855491.1
XM_017000003.1 3780 Missense Mutation GAA,GAC E1202D XP_016855492.1
Gene
TPR
Gene Name
translocated promoter region, nuclear basket protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003292.2 3780 UTR 3 NP_003283.2

View Full Product Details