Product Details

SNP ID

rs144082359

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:98609988 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTATCGAAAACAGACGAAGGACCAG[C/T]GGGCCAGAGATGACCCTGCTTTCTT

Phenotype

MIM: 613920 MIM: 604623

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COA5 PubMed Links

Gene Details

Gene

COA5

Gene Name

cytochrome c oxidase assembly factor 5

There are no transcripts associated with this gene.

Gene

MGAT4A

Gene Name

mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A

There are no transcripts associated with this gene.

Gene

UNC50

Gene Name

unc-50 inner nuclear membrane RNA binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005263913.4	391	Missense Mutation	CGG,TGG	R94W	XP_005263970.1
XM_006712403.3	391	Missense Mutation	CGG,TGG	R94W	XP_006712466.1
XM_006712404.2	391	Missense Mutation	CGG,TGG	R77W	XP_006712467.1

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