Product Details

SNP ID
rs143163178
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:161365090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAATTATGGTTGGACTTCGTGCTT[A/G]TTGTACAGTCTTTGTGATAGACTTC
Phenotype
MIM: 616119 MIM: 602413
Polymorphism
A/G, Transition 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_001013625.3 424 Nonsense Mutation CAA,TAA Q137* 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_001035511.1 424 Intron NP_001030588.1
NM_001035512.1 424 Intron NP_001030589.1
NM_001035513.1 424 Intron NP_001030590.1
NM_001278172.1 424 Intron NP_001265101.1
NM_003001.3 424 Intron NP_002992.1

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