Product Details

SNP ID
rs201547667
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178465885 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTGCATCCTGATATGACTTGTCA[C/T]GTGGCTTCTCATCTTTTTCAAATTC
Phenotype
MIM: 610219 MIM: 607062
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
DFNB59 PubMed Links

Gene Details

Gene
DFNB59
Gene Name
deafness, autosomal recessive 59
There are no transcripts associated with this gene.

Gene
FKBP7
Gene Name
FK506 binding protein 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135212.1 1799 Missense Mutation CAT,CGT H184R NP_001128684.1
NM_181342.2 1799 Missense Mutation CAT,CGT H185R NP_851939.1
XM_005246638.4 1799 UTR 3 XP_005246695.1
XM_011511348.2 1799 Missense Mutation CAT,CGT H78R XP_011509650.1
XM_011511349.2 1799 Missense Mutation CAT,CGT H77R XP_011509651.1

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