Product Details

SNP ID
rs1133805
Assay Type
Functionally tested
NCBI dbSNP Submissions
48
Location
Chr.1:161364868 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TATACGGGTTTTTCAGTGTGTGGCC[A/C]CTTGGTCCATATGAAGTTCCAGGTT
Phenotype
MIM: 616119 MIM: 602413
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CFAP126 PubMed Links

Gene Details

Gene
CFAP126
Gene Name
cilia and flagella associated protein 126
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013625.3 646 UTR 3 NP_001013647.2
Gene
SDHC
Gene Name
succinate dehydrogenase complex subunit C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035511.1 646 Intron NP_001030588.1
NM_001035512.1 646 Intron NP_001030589.1
NM_001035513.1 646 Intron NP_001030590.1
NM_001278172.1 646 Intron NP_001265101.1
NM_003001.3 646 Intron NP_002992.1

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