Product Details

SNP ID
rs114930262
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31459990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAGTGCGCAGACTCGGAGGCATA[C/T]TCCCTTTGGGTAAGTGCTCCGCCCC
Phenotype
MIM: 615549
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ARMC5 PubMed Links

Gene Details

Gene
ARMC5
Gene Name
armadillo repeat containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105247.1 1128 Missense Mutation CTC,TTC L156F NP_001098717.1
NM_001288767.1 1128 Missense Mutation CTC,TTC L251F NP_001275696.1
NM_001301820.1 1128 Missense Mutation CTC,TTC L188F NP_001288749.1
NM_024742.2 1128 Missense Mutation CTC,TTC L156F NP_079018.1
XM_006721091.2 1128 Missense Mutation CTC,TTC L188F XP_006721154.1

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