Product Details

SNP ID

rs140687799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120504909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAATGCCAACCTGGATATGAGGGG[A/T]TTGTTCACTTGGCTAAATTCCAGAC

Phenotype

MIM: 616359 MIM: 601562 MIM: 616207

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

COQ5 PubMed Links

Gene Details

Gene

COQ5

Gene Name

coenzyme Q5, methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032314.3	776	Missense Mutation	AAA,AAT	K252N	NP_115690.3
XM_006719639.2	776	Missense Mutation	AAA,AAT	K171N	XP_006719702.1

Gene

DYNLL1

Gene Name

dynein light chain LC8-type 1

There are no transcripts associated with this gene.

Gene

NRAV

Gene Name

negative regulator of antiviral response (non-protein coding)

There are no transcripts associated with this gene.

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