Product Details

SNP ID

rs4281295

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:226950712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTCACAAAATGAAAACATCTGTG[A/G]AACTGGTTTCATTCATGGGGGAGAA

Phenotype

MIM: 606980

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COQ8A PubMed Links

Gene Details

Gene

COQ8A

Gene Name

coenzyme Q8A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020247.4		Intron			NP_064632.2
XM_005273201.1		Intron			XP_005273258.1
XM_011544238.1		Intron			XP_011542540.1
XM_011544239.2		Intron			XP_011542541.1
XM_011544240.2		Intron			XP_011542542.1
XM_011544241.2		Intron			XP_011542543.1
XM_017001852.1		Intron			XP_016857341.1

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