Product Details

SNP ID
rs558040715
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17494255 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTCAGGTCCCAAGGATGCCATCT[G/T]GTGTGTGTAGTGTGGCCTCTCTCAA
Phenotype
MIM: 605242
Polymorphism
G/T, Transversion 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 2030 UTR 3 NP_001284693.1
NM_005709.3 2030 UTR 3 NP_005700.2
NM_153676.3 2030 UTR 3 NP_710142.1
XM_011519832.2 2030 UTR 3 XP_011518134.1
XM_011519834.2 2030 Intron XP_011518136.1
XM_017017072.1 2030 Intron XP_016872561.1
XM_017017073.1 2030 Intron XP_016872562.1
XM_017017074.1 2030 Intron XP_016872563.1
XM_017017075.1 2030 Intron XP_016872564.1

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