Product Details

SNP ID
rs148395391
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:161365648 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGAGGTCAGGGTCACCCGAGCAG[G/T]GGGTATCTTCAGAGGCATTTGCCAG
Phenotype
MIM: 616119 MIM: 602413
Polymorphism
G/T, 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_001013625.3 241 Missense Mutation ACT,CCT T76P 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_001035511.1 241 Intron NP_001030588.1
NM_001035512.1 241 Intron NP_001030589.1
NM_001035513.1 241 Intron NP_001030590.1
NM_001278172.1 241 Intron NP_001265101.1
NM_003001.3 241 Intron NP_002992.1

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