Product Details

SNP ID
rs181843638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:55220703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGTCCACTTCCGCGCAATCCTGC[C/T]CCGCAGCGCTGACCAACTCCTCCAG
Phenotype
MIM: 614086
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MCIDAS PubMed Links

Gene Details

Gene
MCIDAS
Gene Name
multiciliate differentiation and DNA synthesis associated cell cycle protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190787.1 998 Missense Mutation GAG,GGG E274G NP_001177716.1
XM_017009439.1 998 Missense Mutation GAG,GGG E143G XP_016864928.1

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