Product Details

SNP ID

rs146328123

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8302836 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGACTGGTCTCCGGCAGAGGAG[G/T]ATGTGGCATTCCCGACAGAGGGGAC

Phenotype

MIM: 606475 MIM: 602139

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CD320 PubMed Links

Gene Details

Gene

CD320

Gene Name

CD320 molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165895.1	713	Missense Mutation	TAC,TCC	Y174S	NP_001159367.1
NM_016579.3	713	Missense Mutation	TAC,TCC	Y216S	NP_057663.1

Gene

NDUFA7

Gene Name

NADH:ubiquinone oxidoreductase subunit A7

There are no transcripts associated with this gene.

View Full Product Details