Product Details

SNP ID
rs112353249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:24038662 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTAGATCCAGAGGTTCTAAATAG[A/G]AAGAAGAAACTGATACTTCAGAATT
Phenotype
MIM: 600620 MIM: 616234
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FKBP1B PubMed Links

Gene Details

Gene
FKBP1B
Gene Name
FK506 binding protein 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322963.1 964 Intron NP_001309892.1
NM_001322964.1 964 Intron NP_001309893.1
NM_004116.4 964 Intron NP_004107.1
NM_054033.3 964 Intron NP_473374.1
XM_011532699.2 964 Intron XP_011531001.1
XM_017003593.1 964 Intron XP_016859082.1
XM_017003594.1 964 Intron XP_016859083.1
XM_017003595.1 964 Intron XP_016859084.1
XM_017003596.1 964 Intron XP_016859085.1
Gene
WDCP
Gene Name
WD repeat and coiled coil containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142319.1 964 Missense Mutation TCC,TTC S278F NP_001135791.1
NM_025203.2 964 Missense Mutation TCC,TTC S278F NP_079479.1
XM_017005029.1 964 Missense Mutation TCC,TTC S278F XP_016860518.1

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