Product Details

SNP ID
rs143307217
Assay Type
Functionally Tested
NCBI dbSNP Submissions
13
Location
Chr.1:185120071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTTGTCATTCACTGACATTTCA[A/G]CTCTTTCAGTTACTGTATCTTCAGA
Phenotype
MIM: 611673
Polymorphism
A/G, Transition 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 3859 Missense Mutation GCT,GTT A561V NP_001189352.1
NM_030934.4 3859 Missense Mutation GCT,GTT A717V NP_112196.3
XM_011510028.2 3859 Missense Mutation GCT,GTT A561V XP_011508330.1
XM_017002419.1 3859 Intron XP_016857908.1

View Full Product Details