Product Details

SNP ID
rs200918654
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:32541470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAATTGCCTTGATGGCTCAGTTT[C/G]AAGAGACACAATGTTACTGGGCTGG
Phenotype
MIM: 609507
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
TOPORS PubMed Links

Gene Details

Gene
TOPORS
Gene Name
TOP1 binding arginine/serine rich protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195622.1 3052 Missense Mutation CAA,GAA Q954E NP_001182551.1
NM_005802.4 3052 Missense Mutation CAA,GAA Q1019E NP_005793.2
Gene
TOPORS-AS1
Gene Name
TOPORS antisense RNA 1
There are no transcripts associated with this gene.

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