Product Details

SNP ID: rs143339409
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:32553937 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AATTACTTCTCCAGTCTCCAGAATT[A/G]TATCACCCTAGGAAAACAAAGATAC
Phenotype: MIM: 603322 MIM: 609507
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: NDUFB6 PubMed Links

Gene Details

Gene: NDUFB6
Gene Name: NADH:ubiquinone oxidoreductase subunit B6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199987.1	405	Missense Mutation	ACA,ATA	T78I	NP_001186916.1
NM_002493.4	405	Missense Mutation	ACA,ATA	T109I	NP_002484.1
NM_182739.2	405	Missense Mutation	ACA,ATA	T94I	NP_877416.1

Gene: TOPORS
Gene Name: TOP1 binding arginine/serine rich protein

There are no transcripts associated with this gene.

Gene: TOPORS-AS1
Gene Name: TOPORS antisense RNA 1

There are no transcripts associated with this gene.

View Full Product Details