Product Details

SNP ID
rs138258458
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:36602314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCTGTGCTGCGTTCCGCACACTT[C/G]CTCGGAGTGGATAAGGTCATCACCA
Phenotype
MIM: 616159
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
DHRS11 PubMed Links

Gene Details

Gene
DHRS11
Gene Name
dehydrogenase/reductase 11
There are no transcripts associated with this gene.

Gene
MRM1
Gene Name
mitochondrial rRNA methyltransferase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024864.4 734 Missense Mutation TTC,TTG F168L NP_079140.2
XM_005257694.4 734 Missense Mutation TTC,TTG F168L XP_005257751.1
XM_011525275.2 734 Missense Mutation TTC,TTG F168L XP_011523577.1
XM_011525276.2 734 Missense Mutation TTC,TTG F168L XP_011523578.1
XM_017025112.1 734 Missense Mutation TTC,TTG F168L XP_016880601.1

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