Product Details

SNP ID

rs141851701

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:234373807 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCCAATCGCCTGCTTGGTGATT[A/G]TGGCCCCCACACACCTGTTTCTACA

Phenotype

MIM: 614772

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COA6 PubMed Links

Gene Details

Gene

COA6

Gene Name

cytochrome c oxidase assembly factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012985.2	125	Missense Mutation	TAT,TGT	Y30C	NP_001013003.1
NM_001206641.2	125	Intron			NP_001193570.2
NM_001301733.1	125	UTR 5			NP_001288662.1

Gene

LOC101927765

Gene Name

uncharacterized LOC101927765

There are no transcripts associated with this gene.

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