Product Details

SNP ID
rs12843727
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:47144521 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGTTCTGGGTCCTCTTGCCACGG[G/T]GTGGTCGGTTCTGGGGGCCGCTTTC
Phenotype
MIM: 300403 MIM: 300080
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NDUFB11 PubMed Links

Gene Details

Gene
NDUFB11
Gene Name
NADH:ubiquinone oxidoreductase subunit B11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135998.2 690 Silent Mutation ACA,ACC T53T NP_001129470.1
NM_019056.6 690 Silent Mutation ACA,ACC T53T NP_061929.2
Gene
RBM10
Gene Name
RNA binding motif protein 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204466.1 690 Intron NP_001191395.1
NM_001204467.1 690 Intron NP_001191396.1
NM_001204468.1 690 Intron NP_001191397.1
NM_005676.4 690 Intron NP_005667.2
NM_152856.2 690 Intron NP_690595.1
XM_005272677.4 690 Intron XP_005272734.1
XM_005272678.4 690 Intron XP_005272735.1
XM_005272679.4 690 Intron XP_005272736.1
XM_006724563.1 690 Intron XP_006724626.1
XM_011543989.2 690 Intron XP_011542291.1
XM_017029884.1 690 Intron XP_016885373.1
XM_017029885.1 690 Intron XP_016885374.1

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