Product Details

SNP ID

rs12721629

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.7:99762177 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

ACATCTTTTTTGCAGACCCTCTCAA[A/G]TCTCATAGCAATTGGGAATAATCTG

Phenotype

MIM: 124010

Polymorphism

A/G, Transition substitution

Allele Nomenclature

CYP3A4*12,c.1117 C>T CYP3A4*12,c.1117C>T CYP3A4*12,g.21896C>T

Literature Links

CYP3A4 PubMed Links

Gene Details

Gene

CYP3A4

Gene Name

cytochrome P450 family 3 subfamily A member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202855.2	1221	Missense Mutation	CTT,TTT	L372F	NP_001189784.1
NM_017460.5	1221	Missense Mutation	CTT,TTT	L373F	NP_059488.2
XM_017011780.1	1221	Missense Mutation	CTT,TTT	L373F	XP_016867269.1

View Full Product Details