Product Details

SNP ID
rs199986496
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:13774536 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCCGCAAAGAGTAAGACGGCAG[C/T]GGCAGCCTCTGAAAAGAATCGGGGC
Phenotype
MIM: 615105
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C19orf53 PubMed Links

Gene Details

Gene
C19orf53
Gene Name
chromosome 19 open reading frame 53
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014047.2 94 Missense Mutation GCG,GTG A20V NP_054766.1
Gene
MRI1
Gene Name
methylthioribose-1-phosphate isomerase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011528355.2 94 Intron XP_011526657.1
XM_011528356.2 94 Intron XP_011526658.1
XM_011528357.2 94 Intron XP_011526659.1

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