Product Details

SNP ID
rs200043407
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:186312867 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGCCCAACATCAGAAAACCTGAC[A/G]GCTATGATTACTATGCCTTTTCTAA
Phenotype
MIM: 604283 MIM: 189940
Polymorphism
A/G, 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 3862 Missense Mutation AGC,GGC S1323G NP_001121180.2
NM_001127709.2 3862 Missense Mutation AGC,GGC S1271G NP_001121181.2
NM_001127710.2 3862 Missense Mutation AGC,GGC S1230G NP_001121182.2
NM_001303232.1 3862 Missense Mutation AGC,GGC S1321G NP_001290161.1
NM_005807.4 3862 Missense Mutation AGC,GGC S1364G NP_005798.3
XM_017000002.1 3862 Missense Mutation AGC,GGC S1271G XP_016855491.1
XM_017000003.1 3862 Missense Mutation AGC,GGC S1230G 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 3862 UTR 3 NP_003283.2

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