Product Details

SNP ID

hCV27861743

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:37782169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTCCACCTAAGTTCTTTTACACA[A/T]GAAAACTTCTTGGGGTAAGTATAAA

Phenotype

MIM: 300481

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CYBB PubMed Links

Gene Details

Gene

CYBB

Gene Name

cytochrome b-245 beta chain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000397.3	188	Nonsense Mutation	AGA,TGA	R43*	NP_000388.2

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