Product Details

SNP ID
rs201091237
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:97441183 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATACTTCTTACCGGATAGTTCCT[C/T]GAAAAGAGTTCTTAAGAGGCATGGA
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_001318362.1 232 Missense Mutation CAA,CGA Q75R NP_001305291.1
NM_001318363.1 232 Missense Mutation CAA,CGA Q100R NP_001305292.1
NM_001318364.1 232 Intron NP_001305293.1
NM_001318365.1 232 Missense Mutation AAG,GAG K12E NP_001305294.1
NM_001318366.1 232 Missense Mutation AAG,GAG K12E NP_001305295.1
NM_016046.4 232 Missense Mutation CAA,CGA Q100R NP_057130.1
XM_011539847.2 232 Missense Mutation CAA,CGA Q65R XP_011538149.1
XM_017016304.1 232 Missense Mutation AAG,GAG K29E 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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