Product Details

SNP ID

rs191774854

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:155511900 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTTACTCACAAATAACAGTAGAT[A/T]TTTTTGGTTCCAGAATTTAATCCAT

Phenotype

MIM: 300777

Polymorphism

A/T, 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		Intron			NP_001171726.1
NM_018196.3		Intron			NP_060666.1
XM_011531182.2		Intron			XP_011529484.1
XM_017029620.1		Intron			XP_016885109.1

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