Product Details

SNP ID
rs200507933
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178454370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAATTACTGAATTATGAAGATGAA[A/T]CAGATGTTTCACTCTATGGAAGGCG
Phenotype
MIM: 610219 MIM: 607062 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_001042702.3 977 Missense Mutation ACA,TCA T84S NP_001036167.1
XM_005246627.2 977 Missense Mutation ACA,TCA T87S XP_005246684.1
XM_005246628.3 977 Missense Mutation ACA,TCA T119S XP_005246685.1
XM_005246629.3 977 Missense Mutation ACA,TCA T81S XP_005246686.1
XM_011511247.2 977 Missense Mutation ACA,TCA T119S XP_011509549.1
XM_011511249.2 977 UTR 5 XP_011509551.1
XM_011511250.2 977 UTR 5 XP_011509552.1
XM_011511251.1 977 UTR 5 XP_011509553.1
XM_017004221.1 977 Missense Mutation ACA,TCA T119S XP_016859710.1
XM_017004222.1 977 UTR 5 XP_016859711.1
XM_017004223.1 977 UTR 5 XP_016859712.1
XM_017004224.1 977 UTR 5 XP_016859713.1
XM_017004225.1 977 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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