Product Details

SNP ID
rs200000259
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144078895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACTGGCTGTGGTCTACGGCCCGC[A/G]CGAGGCGAGTGGGCGCGCGGGATGG
Phenotype
MIM: 606491 MIM: 603048
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
EXOSC4 PubMed Links

Gene Details

Gene
EXOSC4
Gene Name
exosome component 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019037.2 277 Missense Mutation CAC,CGC H56R NP_061910.1
XM_011517134.2 277 Intron XP_011515436.1
Gene
GPAA1
Gene Name
glycosylphosphatidylinositol anchor attachment 1
There are no transcripts associated with this gene.

Gene
MIR6847
Gene Name
microRNA 6847
There are no transcripts associated with this gene.

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