Product Details

SNP ID
rs201533059
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17495607 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGGAGGAACCCGTGTCTGTGCA[C/T]GGCAGCACGGTCTTCAAGGAGCTTT
Phenotype
MIM: 605242
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
USH1C PubMed Links

Gene Details

Gene
USH1C
Gene Name
USH1 protein network component harmonin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297764.1 2726 Intron NP_001284693.1
NM_005709.3 2726 Intron NP_005700.2
NM_153676.3 2726 Missense Mutation ATG,GTG M873V NP_710142.1
XM_011519832.2 2726 Intron XP_011518134.1
XM_011519834.2 2726 Intron XP_011518136.1
XM_017017072.1 2726 Intron XP_016872561.1
XM_017017073.1 2726 Intron XP_016872562.1
XM_017017074.1 2726 Intron XP_016872563.1
XM_017017075.1 2726 Missense Mutation ATG,GTG M873V XP_016872564.1

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