Product Details

SNP ID

rs149101812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218782330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGCTCCCGGAGCCGGGCCTGGT[A/G]TCCGGCGGCGGCAACGGAGCTTAGA

Phenotype

MIM: 606530

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CYP27A1 PubMed Links

Gene Details

Gene

CYP27A1

Gene Name

cytochrome P450 family 27 subfamily A member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000784.3	582	Missense Mutation	ATC,GTC	I50V	NP_000775.1
XM_017003488.1	582	UTR 5			XP_016858977.1

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