Product Details

SNP ID
rs200516476
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.2:201085475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTTTCTAGCAATGAAGCTTGGAGA[C/T]ACATGGGTGGCTTTGCAAAGAGTGT
Phenotype
MIM: 603839
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NDUFB3 PubMed Links

Gene Details

Gene
NDUFB3
Gene Name
NADH:ubiquinone oxidoreductase subunit B3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257102.1 480 Missense Mutation CAC,TAC H53Y NP_001244031.1
NM_002491.2 480 Missense Mutation CAC,TAC H53Y NP_002482.1
XM_011511230.2 480 Intron XP_011509532.1
XM_017004186.1 480 Missense Mutation CAC,TAC H53Y XP_016859675.1

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