Product Details

SNP ID

rs11890366

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:98603948 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAATGAGCTGTGGGTTTTTATGAA[C/T]GCTACCTAACGTTAACTCACTGGAG

Phenotype

MIM: 613920 MIM: 600916

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COA5 PubMed Links

Gene Details

Gene

COA5

Gene Name

cytochrome c oxidase assembly factor 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008215.2		Intron			NP_001008216.1

Gene

INPP4A

Gene Name

inositol polyphosphate-4-phosphatase type I A

There are no transcripts associated with this gene.

Gene

UNC50

Gene Name

unc-50 inner nuclear membrane RNA binding protein

There are no transcripts associated with this gene.

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