Product Details

SNP ID
rs199989202
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:155507053 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCCTCAGGTGCCTTTTGAAGTAC[A/C]TGTTCTGCTGCATAGAATCCATCTA
Phenotype
MIM: 300777
Polymorphism
A/C, Transversion 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 1011 Silent Mutation NP_001171726.1
NM_018196.3 1011 Silent Mutation NP_060666.1
XM_011531182.2 1011 Silent Mutation XP_011529484.1
XM_017029620.1 1011 Intron XP_016885109.1

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