Product Details

SNP ID
rs142257224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:30014834 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAATATCCTCCACCAAAGCATCATG[A/T]TGACTTTCATTCACCACCGCACCAT
Phenotype
MIM: 614505
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
FKBP14 PubMed Links

Gene Details

Gene
FKBP14
Gene Name
FK506 binding protein 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017946.3 830 Missense Mutation CAA,CAT Q179H NP_060416.1

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