About: CYP2D6*41 Allele

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About: CYP2D6*41 Allele Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	CYP2D6*41 Allele
rdfs:subClassOf	CYP2D6 Gene nodeID://b656083 nodeID://b656084 nodeID://b656085 nodeID://b656086 nodeID://b656087 nodeID://b656088 nodeID://b656089 nodeID://b656090
OMIM_Number	124030
GenBank_Accession_Number	NM_000106
Semantic_Type	Gene or Genome
Preferred_Name	CYP2D6*41 Allele
PubMedID_Primary_Reference	11037799 15289790 15768052
UMLS_CUI	C1705362
Legacy_Concept_Name	CYP2D6_41_Allele
FULL_SYN	Cytochrome P450, Family 2, Subfamily D, Polypeptide 641 AlleleSYNCI CYP2D6, g.2850C>T, g.4180G>CSYNCI CYP2D641 AllelePTNCI CYP2D6, R296C, S486TSYNCI CYP2D6*41SYNCI
Gene_Encodes_Product	Cytochrome P450 2D6
DEFINITION	Human CYP2D641 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D641 protein. The CYP2D641 allele exhibits clinically-relevant SNPs (g.2850C>T; g.4180G>C) in exons 6 and 9 that result in R296C and S486T coding changes. These alterations in protein sequence decrease the enzymatic activity of the cytochrome P450 2D641 protein.NCI
DesignNote	Ethnicity Association: African American; Caucasian
code	C46058

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