Product Details

SNP ID
rs200868817
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:156253490 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCATGTCTCTCATGAGCCTGTTCC[A/G]ACGAGCTTCCTCCTGTGCCTATGAG
Phenotype
MIM: 614579 MIM: 610962
Polymorphism
A/G, 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 2556 Missense Mutation CGG,TGG R768W NP_001310543.1
NM_001323615.1 2556 Missense Mutation CGG,TGG R775W NP_001310544.1
NM_001323616.1 2556 Missense Mutation CGG,TGG R755W NP_001310545.1
NM_001323617.1 2556 Missense Mutation CGG,TGG R755W NP_001310546.1
NM_015327.2 2556 Missense Mutation CGG,TGG R821W NP_056142.2
XM_017000842.1 2556 Missense Mutation CGG,TGG R609W XP_016856331.1
XM_017000843.1 2556 Missense Mutation CGG,TGG R560W XP_016856332.1

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