Product Details

SNP ID

rs8192709

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.19:40991369 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

AGGACTCTTGCTACTCCTGGTTCAG[C/T]GCCACCCTAACACCCATGACCGCCT

Phenotype

MIM: 123930

Polymorphism

C/T, Transition substitution

Allele Nomenclature

CYP2B6*10,c.64C>T CYP2B6*10,g.64C>T CYP2B6*2A,c.64C>T CYP2B6*2A,g.64C>T CYP2B6*2B,c.64C>T CYP2B6*2B,g.64C>T

Literature Links

CYP2B6 PubMed Links

Gene Details

Gene

CYP2B6

Gene Name

cytochrome P450 family 2 subfamily B member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000767.4	167	Missense Mutation	CGC,TGC	R22C	NP_000758.1
XM_005258569.4	167	Missense Mutation	CGC,TGC	R22C	XP_005258626.1
XM_006723050.3	167	Missense Mutation	CGC,TGC	R22C	XP_006723113.1
XM_011526546.2	167	Missense Mutation	CGC,TGC	R22C	XP_011524848.1
XM_011526547.2	167	Intron			XP_011524849.1
XM_011526548.2	167	Missense Mutation	CGC,TGC	R22C	XP_011524850.1
XM_011526549.2	167	Intron			XP_011524851.1
XM_011526550.2	167	Intron			XP_011524852.1

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