Product Details

SNP ID
rs200054718
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:155514132 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCTAAGAAGCTCTGGCAATCTAC[C/T]GATGGAACTTGGGCTTGCTGGTAGA
Phenotype
MIM: 300777
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TMLHE PubMed Links

Gene Details

Gene
TMLHE
Gene Name
trimethyllysine hydroxylase, epsilon
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001184797.1 663 Silent Mutation TCA,TCG S164S NP_001171726.1
NM_018196.3 663 Silent Mutation TCA,TCG S164S NP_060666.1
XM_011531182.2 663 Silent Mutation TCA,TCG S113S XP_011529484.1
XM_017029620.1 663 Silent Mutation TCA,TCG S164S XP_016885109.1

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