Product Details

SNP ID
rs146819200
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:155514077 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGCAATTCCATAGAGCAGAAAGT[C/T]TTGCAGAAACTTCTTCAGTCCCTCG
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_001184797.1 718 Missense Mutation AAC,GAC N183D NP_001171726.1
NM_018196.3 718 Missense Mutation AAC,GAC N183D NP_060666.1
XM_011531182.2 718 Missense Mutation AAC,GAC N132D XP_011529484.1
XM_017029620.1 718 Missense Mutation AAC,GAC N183D XP_016885109.1

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