Product Details

SNP ID

rs201171633

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:58491542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCGGCAAAATGCCCAAGCCTGCC[C/T]GGGACTGGTCCAAAGGTGGACATTT

Phenotype

MIM: 118455

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CYP7A1 PubMed Links

Gene Details

Gene

CYP7A1

Gene Name

cytochrome P450 family 7 subfamily A member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000780.3	1511	Missense Mutation	CCG,CTG	P483L	NP_000771.2

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