Product Details

SNP ID

rs200127982

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:140702961 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGCGAGTTCTTCAGCGGACTCA[C/T]GTGGTTCTGGATTCTCTGGCGCTTT

Phenotype

MIM: 603838

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ADCK2 PubMed Links

Gene Details

Gene

ADCK2

Gene Name

aarF domain containing kinase 2

There are no transcripts associated with this gene.

Gene

NDUFB2

Gene Name

NADH:ubiquinone oxidoreductase subunit B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004546.2	258	Missense Mutation	ACG,ATG	T65M	NP_004537.1

Gene

NDUFB2-AS1

Gene Name

NDUFB2 antisense RNA 1

There are no transcripts associated with this gene.

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