Product Details

SNP ID
rs200686247
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:178454336 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAGTTTCTTCTTATAAAGGTAT[C/T]TCATCTTATCAATTACTGAATTATG
Phenotype
MIM: 610219 MIM: 607062 MIM: 603424
Polymorphism
C/T, 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_001042702.3 943 Silent Mutation ATC,ATT I72I NP_001036167.1
XM_005246627.2 943 Silent Mutation ATC,ATT I75I XP_005246684.1
XM_005246628.3 943 Silent Mutation ATC,ATT I107I XP_005246685.1
XM_005246629.3 943 Silent Mutation ATC,ATT I69I XP_005246686.1
XM_011511247.2 943 Silent Mutation ATC,ATT I107I XP_011509549.1
XM_011511249.2 943 UTR 5 XP_011509551.1
XM_011511250.2 943 UTR 5 XP_011509552.1
XM_011511251.1 943 UTR 5 XP_011509553.1
XM_017004221.1 943 Silent Mutation ATC,ATT I107I XP_016859710.1
XM_017004222.1 943 UTR 5 XP_016859711.1
XM_017004223.1 943 UTR 5 XP_016859712.1
XM_017004224.1 943 UTR 5 XP_016859713.1
XM_017004225.1 943 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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