Product Details

SNP ID

rs144993866

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:142912003 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTAGTTAATCGCTCTGAAAGTGA[G/T]GAGGGGGGACGTGCCAGGCCTCAAT

Phenotype

MIM: 124080

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CYP11B2 PubMed Links

Gene Details

Gene

CYP11B2

Gene Name

cytochrome P450 family 11 subfamily B member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000498.3	1492	Missense Mutation	ATC,CTC	I497L	NP_000489.3

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