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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