Product Details

SNP ID
rs148011353
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:123183112 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCCGTGTCCCCCAGACACCCTG[G/T]GAGGGGCGGAAGCAGGCCCTAAGGG
Phenotype
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
FAM83A PubMed Links

Gene Details

Gene
FAM83A
Gene Name
family with sequence similarity 83 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288587.2 1185 Missense Mutation GGA,TGA G86* NP_001275516.1
NM_001321630.1 1185 Missense Mutation GGA,TGA G86* NP_001308559.1
NM_032899.6 1185 Missense Mutation GGA,TGA G86* NP_116288.2
NM_207006.2 1185 Missense Mutation GGA,TGA G86* NP_996889.1
XM_005251087.2 1185 Nonsense Mutation GGA,TGA G86* XP_005251144.1
XM_011517338.1 1185 Nonsense Mutation GGA,TGA G86* XP_011515640.1

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