Product Details

SNP ID
rs200972315
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:60975189 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCCTTTTAAGAGGTGGATCTTCAT[A/G]ATTCTCTGTAATAAATCCAGAAAAC
Phenotype
MIM: 602659 MIM: 616518 MIM: 611023
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
MNAT1 PubMed Links

Gene Details

Gene
MNAT1
Gene Name
MNAT1, CDK activating kinase assembly factor
There are no transcripts associated with this gene.

Gene
SLC38A6
Gene Name
solute carrier family 38 member 6
There are no transcripts associated with this gene.

Gene
TRMT5
Gene Name
tRNA methyltransferase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020810.3 1647 Missense Mutation CAT,TAT H484Y NP_065861.3
XM_005267916.3 1647 Missense Mutation CAT,TAT H512Y XP_005267973.2
XM_011537017.2 1647 Missense Mutation CAT,TAT H511Y XP_011535319.1

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