Product Details

SNP ID

rs141376338

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:36601964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGCCGACCTCTCGGCTGGAGCTT[C/T]TGTTTGGCATGACCCCGTGTCTCCT

Phenotype

MIM: 616159

Polymorphism

C/T, Transition 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	384	Silent Mutation	CTG,TTG	L52L	NP_079140.2
XM_005257694.4	384	Silent Mutation	CTG,TTG	L52L	XP_005257751.1
XM_011525275.2	384	Silent Mutation	CTG,TTG	L52L	XP_011523577.1
XM_011525276.2	384	Silent Mutation	CTG,TTG	L52L	XP_011523578.1
XM_017025112.1	384	Silent Mutation	CTG,TTG	L52L	XP_016880601.1

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