Product Details

SNP ID

rs200095319

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:2797752 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGGAGGTCATCAAGGCTTGGGAC[A/C]TTGCCATAGCCACCATGAAGGTGGG

Phenotype

MIM: 600611

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FKBP4 PubMed Links

Gene Details

Gene

FKBP4

Gene Name

FK506 binding protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002014.3	472	Missense Mutation	ATT,CTT	I92L	NP_002005.1
XM_011520929.2	472	Missense Mutation	ATT,CTT	I47L	XP_011519231.1

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