Product Details

SNP ID

rs151344479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:37783509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTAGTCAGCACTGGCACTGGCCA[G/T]GGCCCCTGCAGCCTGCCTGAATTTC

Phenotype

MIM: 300481

Polymorphism

G/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	222	Missense Mutation	AGG,ATG	R54M	NP_000388.2

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