Product Details

SNP ID
rs140464652
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:88612785 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGCTCCGTGTCAGGGTCCAGATG[A/C]TGTTTTCGCTTCTGTCCTTGAGAAG
Phenotype
MIM: 603512
Polymorphism
A/C, Transversion 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 1879 Missense Mutation CAG,CAT Q553H NP_001273355.1
NM_001286428.1 1879 Missense Mutation CAG,CAT Q493H NP_001273357.1
NM_003800.4 1879 Missense Mutation CAG,CAT Q576H NP_003791.3
XM_017011401.1 1879 Missense Mutation CAG,CAT Q582H XP_016866890.1
XM_017011402.1 1879 Intron XP_016866891.1

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