Product Details

SNP ID

rs1062847

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.2:98609710 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CAGAAGAGGAGTGTCGGTAGCCAAA[A/T]GTTTCTTCAGAATACGTGTAAAAGA

Phenotype

MIM: 613920 MIM: 604623

Polymorphism

A/T, Transversion 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	199	Missense Mutation	AAG,ATG	K1M	XP_005263970.1
XM_006712403.3	199	Missense Mutation	AAG,ATG	K1M	XP_006712466.1
XM_006712404.2	199	Intron			XP_006712467.1

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