Product Details

SNP ID
rs202157912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:155511770 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGAAGTCTGAAGTGAAATACC[A/G]CATCCTCCCATAAATGGTTTCTCTG
Phenotype
MIM: 300777
Polymorphism
A/G, 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_001184797.1 832 Missense Mutation CGG,TGG R221W NP_001171726.1
NM_018196.3 832 Missense Mutation CGG,TGG R221W NP_060666.1
XM_011531182.2 832 Missense Mutation CGG,TGG R170W XP_011529484.1
XM_017029620.1 832 Missense Mutation CGG,TGG R221W XP_016885109.1

View Full Product Details