Product Details

SNP ID
rs202112554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:31459490 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTTCCGCTCCCTGGGATCAGCGG[C/T]GAGAAGCGGGGCGGAGTCTGAGGCC
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_001105247.1 628 UTR 5 NP_001098717.1
NM_001288767.1 628 Missense Mutation GCG,GTG A84V NP_001275696.1
NM_001301820.1 628 Missense Mutation GCG,GTG A21V NP_001288749.1
NM_024742.2 628 UTR 5 NP_079018.1
XM_006721091.2 628 Missense Mutation GCG,GTG A21V XP_006721154.1

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