Product Details

SNP ID
rs149684008
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:97436466 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCTTAGGTCTGCAAGAATTCGGG[C/T]TGTACTCGGGCTACTTTCCGGAATT
Phenotype
MIM: 606493 MIM: 172250 MIM: 616750
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EXOSC1 PubMed Links

Gene Details

Gene
EXOSC1
Gene Name
exosome component 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318362.1 507 Silent Mutation CAA,CAG Q164Q NP_001305291.1
NM_001318363.1 507 Silent Mutation CAA,CAG Q146Q NP_001305292.1
NM_001318364.1 507 Silent Mutation CAA,CAG Q123Q NP_001305293.1
NM_001318365.1 507 Silent Mutation CAA,CAG Q103Q NP_001305294.1
NM_001318366.1 507 Silent Mutation CAA,CAG Q103Q NP_001305295.1
NM_016046.4 507 Silent Mutation CAA,CAG Q189Q NP_057130.1
XM_011539847.2 507 Silent Mutation CAA,CAG Q154Q XP_011538149.1
XM_017016304.1 507 Silent Mutation CAA,CAG Q120Q XP_016871793.1
Gene
PGAM1
Gene Name
phosphoglycerate mutase 1
There are no transcripts associated with this gene.

Gene
ZDHHC16
Gene Name
zinc finger DHHC-type containing 16
There are no transcripts associated with this gene.

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