Product Details

SNP ID
rs2883081
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:73330290 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCCAAACACCACTGTCCTGTTT[A/G]AGATTGAGCTGCTTGACTTCCTGGA
Phenotype
MIM: 604839 MIM: 612548
Polymorphism
A/G, 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_001135211.2 510 Missense Mutation AAG,GAG K131E NP_001128683.1
NM_001281304.1 510 Missense Mutation AAG,GAG K106E NP_001268233.1
NM_003602.4 510 Missense Mutation AAG,GAG K136E NP_003593.3
XM_006716153.2 510 Missense Mutation AAG,GAG K131E XP_006716216.1
XM_017012741.1 510 Missense Mutation AAG,GAG K131E XP_016868230.1
XM_017012742.1 510 Missense Mutation AAG,GAG K131E XP_016868231.1
Gene
TRIM50
Gene Name
tripartite motif containing 50
There are no transcripts associated with this gene.

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