Product Details

SNP ID
rs199693434
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178460396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGGAGGATTTGAAAGGGAAGAAA[C/T]GGCAACATTTGCACTGCTGTACAGG
Phenotype
MIM: 610219 MIM: 607062 MIM: 603424
Polymorphism
C/T, Transition 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 1443 Missense Mutation ACG,ATG T239M NP_001036167.1
XM_005246627.2 1443 Missense Mutation ACG,ATG T242M XP_005246684.1
XM_005246628.3 1443 Intron XP_005246685.1
XM_005246629.3 1443 Missense Mutation ACG,ATG T236M XP_005246686.1
XM_011511247.2 1443 Missense Mutation ACG,ATG T274M XP_011509549.1
XM_011511249.2 1443 Missense Mutation ACG,ATG T80M XP_011509551.1
XM_011511250.2 1443 Missense Mutation ACG,ATG T80M XP_011509552.1
XM_011511251.1 1443 Missense Mutation ACG,ATG T80M XP_011509553.1
XM_017004221.1 1443 Missense Mutation ACG,ATG T274M XP_016859710.1
XM_017004222.1 1443 Missense Mutation ACG,ATG T80M XP_016859711.1
XM_017004223.1 1443 Missense Mutation ACG,ATG T80M XP_016859712.1
XM_017004224.1 1443 Missense Mutation ACG,ATG T80M XP_016859713.1
XM_017004225.1 1443 Missense Mutation ACG,ATG T80M 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.

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