Product Details

SNP ID
rs182420107
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201078916 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAACATGGACATGAGCATGGACAT[C/T]ATAAAATGGAACTTCCAGATTATAG
Phenotype
MIM: 603839
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM126B PubMed Links

Gene Details

Gene
FAM126B
Gene Name
family with sequence similarity 126 member B
There are no transcripts associated with this gene.

Gene
NDUFB3
Gene Name
NADH:ubiquinone oxidoreductase subunit B3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001257102.1 357 Missense Mutation CAT,TAT H12Y NP_001244031.1
NM_002491.2 357 Missense Mutation CAT,TAT H12Y NP_002482.1
XM_011511230.2 357 Intron XP_011509532.1
XM_017004186.1 357 Missense Mutation CAT,TAT H12Y XP_016859675.1

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