Product Details

SNP ID

rs183507609

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:36601814 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCCCTGGCGGGAGCTGCGCCATG[A/G]CATTGCTCTCGACCGTCCGGGGCGC

Phenotype

MIM: 616159

Polymorphism

A/G, 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	234	Missense Mutation	ACA,GCA	T2A	NP_079140.2
XM_005257694.4	234	Missense Mutation	ACA,GCA	T2A	XP_005257751.1
XM_011525275.2	234	Missense Mutation	ACA,GCA	T2A	XP_011523577.1
XM_011525276.2	234	Missense Mutation	ACA,GCA	T2A	XP_011523578.1
XM_017025112.1	234	Missense Mutation	ACA,GCA	T2A	XP_016880601.1

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