Product Details

SNP ID
rs138287395
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178454085 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTTATTTTTTCTTTTAATTGCCC[G/T]GTGGATCTTGATGCTTAAGAAGTTC
Phenotype
MIM: 610219 MIM: 607062 MIM: 603424
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DFNB59 PubMed Links

Gene Details

Gene
DFNB59
Gene Name
deafness, autosomal recessive 59
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042702.3 1449 Intron NP_001036167.1
XM_005246627.2 1449 Intron XP_005246684.1
XM_005246628.3 1449 Intron XP_005246685.1
XM_005246629.3 1449 Intron XP_005246686.1
XM_011511247.2 1449 Intron XP_011509549.1
XM_011511249.2 1449 Intron XP_011509551.1
XM_011511250.2 1449 Intron XP_011509552.1
XM_011511251.1 1449 Intron XP_011509553.1
XM_017004221.1 1449 Intron XP_016859710.1
XM_017004222.1 1449 Intron XP_016859711.1
XM_017004223.1 1449 UTR 5 XP_016859712.1
XM_017004224.1 1449 UTR 5 XP_016859713.1
XM_017004225.1 1449 Intron XP_016859714.1
Gene
FKBP7
Gene Name
FK506 binding protein 7
There are no transcripts associated with this gene.

Gene
PRKRA
Gene Name
protein activator of interferon induced protein kinase EIF2AK2
There are no transcripts associated with this gene.

View Full Product Details