Product Details

SNP ID
rs199729807
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:185120475 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACATCAGTCTTTTGCTTCTTGCC[G/T]AAATTTGTGATCATTTCATTACTTT
Phenotype
MIM: 611673
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
TRMT1L PubMed Links

Gene Details

Gene
TRMT1L
Gene Name
tRNA methyltransferase 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001202423.1 3566 Missense Mutation TTA,TTC L463F NP_001189352.1
NM_030934.4 3566 Missense Mutation TTA,TTC L619F NP_112196.3
XM_011510028.2 3566 Missense Mutation TTA,TTC L463F XP_011508330.1
XM_017002419.1 3566 Intron XP_016857908.1

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