Product Details

SNP ID
rs142673543
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:156253461 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGATTTCCTACCTGAAGTCGTAG[C/T]TGAGCCATGTCTCTCATGAGCCTGT
Phenotype
MIM: 614579 MIM: 610962
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PAQR6 PubMed Links

Gene Details

Gene
PAQR6
Gene Name
progestin and adipoQ receptor family member 6
There are no transcripts associated with this gene.

Gene
SMG5
Gene Name
SMG5, nonsense mediated mRNA decay factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323614.1 2585 Silent Mutation CAA,CAG Q777Q NP_001310543.1
NM_001323615.1 2585 Silent Mutation CAA,CAG Q784Q NP_001310544.1
NM_001323616.1 2585 Silent Mutation CAA,CAG Q764Q NP_001310545.1
NM_001323617.1 2585 Silent Mutation CAA,CAG Q764Q NP_001310546.1
NM_015327.2 2585 Silent Mutation CAA,CAG Q830Q NP_056142.2
XM_017000842.1 2585 Silent Mutation CAA,CAG Q618Q XP_016856331.1
XM_017000843.1 2585 Silent Mutation CAA,CAG Q569Q XP_016856332.1

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