Product Details

SNP ID

hCV27540491

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:37783538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGCAGCCTGCCTGAATTTCAAC[C/T]GCATGCTGATTCTCTTGCCAGTCTG

Phenotype

MIM: 300481

Polymorphism

C/T, Transition 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	251	Missense Mutation	CGC,TGC	R64C	NP_000388.2

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