Product Details

SNP ID
rs79169978
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:13764607 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACCATGACCCTGGAGGCGATC[C/T]GCTACTCGCGGGGCTCCCTGCAGAT
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
There are no transcripts associated with this gene.

Gene
CCDC130
Gene Name
coiled-coil domain containing 130
There are no transcripts associated with this gene.

Gene
MRI1
Gene Name
methylthioribose-1-phosphate isomerase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_011528355.2 116 Missense Mutation CGC,TGC R7C XP_011526657.1
XM_011528356.2 116 Missense Mutation CGC,TGC R7C XP_011526658.1
XM_011528357.2 116 Missense Mutation CGC,TGC R7C XP_011526659.1

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