Product Details

SNP ID
rs200749999
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73341306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCTGACTGAGTATCAAAAGGCC[C/T]GGGATTTTCTAGTTCGAGCCCAGAA
Phenotype
MIM: 604839
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FKBP6 PubMed Links

Gene Details

Gene
FKBP6
Gene Name
FK506 binding protein 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135211.2 938 Missense Mutation CGG,TGG R268W NP_001128683.1
NM_001281304.1 938 Missense Mutation CGG,TGG R243W NP_001268233.1
NM_003602.4 938 Missense Mutation CGG,TGG R273W NP_003593.3
XM_006716153.2 938 Missense Mutation CGG,TGG R228W XP_006716216.1
XM_017012741.1 938 Missense Mutation CGG,TGG R263W XP_016868230.1
XM_017012742.1 938 UTR 3 XP_016868231.1

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