Product Details

SNP ID

hCV27861741

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:37782096 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTCTGTTTGTGCAGCTGGTTTG[C/G]CTGGGGTTGAACGTCTTCCTCTTTG

Phenotype

MIM: 300481

Polymorphism

C/G, 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	115	Missense Mutation	TGC,TGG	C18W	NP_000388.2

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