Product Details

SNP ID
rs200878798
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178460431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCACTGCTGTACAGGTTGAGAAAT[A/G]TCCTATTTGAAAGAAGTATGTTTAT
Phenotype
MIM: 610219 MIM: 607062 MIM: 603424
Polymorphism
A/G, 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 1478 Missense Mutation ATC,GTC I251V NP_001036167.1
XM_005246627.2 1478 Missense Mutation ATC,GTC I254V XP_005246684.1
XM_005246628.3 1478 Intron XP_005246685.1
XM_005246629.3 1478 Missense Mutation ATC,GTC I248V XP_005246686.1
XM_011511247.2 1478 Intron XP_011509549.1
XM_011511249.2 1478 Missense Mutation ATC,GTC I92V XP_011509551.1
XM_011511250.2 1478 Missense Mutation ATC,GTC I92V XP_011509552.1
XM_011511251.1 1478 Missense Mutation ATC,GTC I92V XP_011509553.1
XM_017004221.1 1478 Missense Mutation ATC,GTC I286V XP_016859710.1
XM_017004222.1 1478 Missense Mutation ATC,GTC I92V XP_016859711.1
XM_017004223.1 1478 Missense Mutation ATC,GTC I92V XP_016859712.1
XM_017004224.1 1478 Missense Mutation ATC,GTC I92V XP_016859713.1
XM_017004225.1 1478 Missense Mutation ATC,GTC I92V 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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