Product Details

SNP ID
rs151186254
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:97441177 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAAAAGGATACTTCTTACCGGATA[G/T]TTCCTCGAAAAGAGTTCTTAAGAGG
Phenotype
MIM: 606493 MIM: 172250 MIM: 616750
Polymorphism
G/T, Transversion 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_001318362.1 238 Missense Mutation AAT,ACT N77T NP_001305291.1
NM_001318363.1 238 Missense Mutation AAT,ACT N102T NP_001305292.1
NM_001318364.1 238 Intron NP_001305293.1
NM_001318365.1 238 Missense Mutation ATA,CTA I14L NP_001305294.1
NM_001318366.1 238 Missense Mutation ATA,CTA I14L NP_001305295.1
NM_016046.4 238 Missense Mutation AAT,ACT N102T NP_057130.1
XM_011539847.2 238 Missense Mutation AAT,ACT N67T XP_011538149.1
XM_017016304.1 238 Missense Mutation ATA,CTA I31L 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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