Product Details

SNP ID
rs74435413
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178451747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGGGCTCCTTTGTCTTCTGGGCT[A/T]TCGTCGCGAGATGGAACGCTGGGTC
Phenotype
MIM: 610219 MIM: 603424
Polymorphism
A/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_001042702.3 479 UTR 5 NP_001036167.1
XM_005246627.2 479 UTR 5 XP_005246684.1
XM_005246628.3 479 Intron XP_005246685.1
XM_005246629.3 479 UTR 5 XP_005246686.1
XM_011511247.2 479 Intron XP_011509549.1
XM_011511249.2 479 UTR 5 XP_011509551.1
XM_011511250.2 479 UTR 5 XP_011509552.1
XM_011511251.1 479 Intron XP_011509553.1
XM_017004221.1 479 Intron XP_016859710.1
XM_017004222.1 479 Intron XP_016859711.1
XM_017004223.1 479 Intron XP_016859712.1
XM_017004224.1 479 Intron XP_016859713.1
XM_017004225.1 479 Intron XP_016859714.1
Gene
PRKRA
Gene Name
protein activator of interferon induced protein kinase EIF2AK2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001139517.1 479 Intron NP_001132989.1
NM_001139518.1 479 Intron NP_001132990.1
NM_001316362.1 479 Intron NP_001303291.1
NM_003690.4 479 Intron NP_003681.1
XM_011512063.1 479 Intron XP_011510365.1
XM_011512066.1 479 Intron XP_011510368.1
XM_017005159.1 479 Intron XP_016860648.1

View Full Product Details