Product Details

SNP ID
rs200502817
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178453495 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTTCCAAGCCTCAGTGAAGCTG[A/G]CAAATATCAACCTCTAAGTCTGGTG
Phenotype
MIM: 610219 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_001042702.3 813 Missense Mutation GAC,GGC D29G NP_001036167.1
XM_005246627.2 813 Missense Mutation GAC,GGC D32G XP_005246684.1
XM_005246628.3 813 Missense Mutation GAC,GGC D64G XP_005246685.1
XM_005246629.3 813 Missense Mutation GAC,GGC D26G XP_005246686.1
XM_011511247.2 813 Missense Mutation GAC,GGC D64G XP_011509549.1
XM_011511249.2 813 Intron XP_011509551.1
XM_011511250.2 813 Intron XP_011509552.1
XM_011511251.1 813 Intron XP_011509553.1
XM_017004221.1 813 Missense Mutation GAC,GGC D64G XP_016859710.1
XM_017004222.1 813 UTR 5 XP_016859711.1
XM_017004223.1 813 UTR 5 XP_016859712.1
XM_017004224.1 813 Intron XP_016859713.1
XM_017004225.1 813 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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