Product Details

SNP ID
rs200485806
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:185124948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTAGCGTTCAGTTAGTCACCTTG[A/C]TTGTTGACATTTGAAGATGCATGAA
Phenotype
MIM: 611673
Polymorphism
A/C, 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 3464 Missense Mutation AAG,AAT K429N NP_001189352.1
NM_030934.4 3464 Missense Mutation AAG,AAT K585N NP_112196.3
XM_011510028.2 3464 Missense Mutation AAG,AAT K429N XP_011508330.1
XM_017002419.1 3464 Intron XP_016857908.1

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