Product Details

SNP ID

rs199844241

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:19072014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGCAGCTGTGGATCGAATAATC[C/T]GGGTGGATCATGCAGGCGAATATGG

Phenotype

MIM: 601683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COQ7 PubMed Links

Gene Details

Gene

COQ7

Gene Name

coenzyme Q7, hydroxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190983.1	179	Missense Mutation	CGG,TGG	R16W	NP_001177912.1
NM_016138.4	179	Missense Mutation	CGG,TGG	R54W	NP_057222.2

Gene

LOC102723385

Gene Name

uncharacterized LOC102723385

There are no transcripts associated with this gene.

Gene

TMC7

Gene Name

transmembrane channel like 7

There are no transcripts associated with this gene.

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