Product Details

SNP ID
rs201772080
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178453496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTCCAAGCCTCAGTGAAGCTGA[A/C]AAATATCAACCTCTAAGTCTGGTGG
Phenotype
MIM: 610219 MIM: 603424
Polymorphism
A/C, 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_001042702.3 814 Missense Mutation GAA,GAC E29D NP_001036167.1
XM_005246627.2 814 Missense Mutation GAA,GAC E32D XP_005246684.1
XM_005246628.3 814 Missense Mutation GAA,GAC E64D XP_005246685.1
XM_005246629.3 814 Missense Mutation GAA,GAC E26D XP_005246686.1
XM_011511247.2 814 Missense Mutation GAA,GAC E64D XP_011509549.1
XM_011511249.2 814 Intron XP_011509551.1
XM_011511250.2 814 Intron XP_011509552.1
XM_011511251.1 814 Intron XP_011509553.1
XM_017004221.1 814 Missense Mutation GAA,GAC E64D XP_016859710.1
XM_017004222.1 814 UTR 5 XP_016859711.1
XM_017004223.1 814 UTR 5 XP_016859712.1
XM_017004224.1 814 Intron XP_016859713.1
XM_017004225.1 814 Intron XP_016859714.1
Gene
PRKRA
Gene Name
protein activator of interferon induced protein kinase EIF2AK2
There are no transcripts associated with this gene.

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