Product Details

SNP ID
rs17856595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:88612732 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGGCAGGTCTTAGGTTAAAGGG[C/T]GTGGTCTTTTGGGAGGTGGTGGTGG
Phenotype
MIM: 603512
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RNGTT PubMed Links

Gene Details

Gene
RNGTT
Gene Name
RNA guanylyltransferase and 5'-phosphatase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286426.1 1932 Missense Mutation CAC,CGC H571R NP_001273355.1
NM_001286428.1 1932 Missense Mutation CAC,CGC H511R NP_001273357.1
NM_003800.4 1932 Missense Mutation CAC,CGC H594R NP_003791.3
XM_017011401.1 1932 Missense Mutation CAC,CGC H600R XP_016866890.1
XM_017011402.1 1932 Intron XP_016866891.1

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