Product Details

SNP ID
rs200516108
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178454418 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGAGGTAACCATATTGTAAATGAC[A/G]TTGGGATTAACGTTGCTGGATCAGA
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 1025 Missense Mutation ATT,GTT I100V NP_001036167.1
XM_005246627.2 1025 Missense Mutation ATT,GTT I103V XP_005246684.1
XM_005246628.3 1025 Missense Mutation ATT,GTT I135V XP_005246685.1
XM_005246629.3 1025 Missense Mutation ATT,GTT I97V XP_005246686.1
XM_011511247.2 1025 Missense Mutation ATT,GTT I135V XP_011509549.1
XM_011511249.2 1025 UTR 5 XP_011509551.1
XM_011511250.2 1025 UTR 5 XP_011509552.1
XM_011511251.1 1025 UTR 5 XP_011509553.1
XM_017004221.1 1025 Missense Mutation ATT,GTT I135V XP_016859710.1
XM_017004222.1 1025 UTR 5 XP_016859711.1
XM_017004223.1 1025 UTR 5 XP_016859712.1
XM_017004224.1 1025 UTR 5 XP_016859713.1
XM_017004225.1 1025 UTR 5 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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