Product Details

SNP ID: rs2293925
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.8:143310198 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TGCTCCTGCAGCTTCTCCAGGAGCC[A/G]CCTCTTCTTCTCCAGGACACTGGCA
Phenotype: MIM: 606387
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: TOP1MT PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258446.1	1603	Missense Mutation	CGG,TGG	R427W	NP_001245375.1
NM_001258447.1	1603	Missense Mutation	CGG,TGG	R427W	NP_001245376.1
NM_052963.2	1603	Missense Mutation	CGG,TGG	R525W	NP_443195.1
XM_005250781.3	1603	Missense Mutation	CGG,TGG	R525W	XP_005250838.1