Product Details

SNP ID
rs201308481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17495658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGACCGGTTGGGGGCTTTCAGCTA[C/T]GGAGGAGGGAAGAGAAGCTCTATAT
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 2675 Intron NP_001284693.1
NM_005709.3 2675 Intron NP_005700.2
NM_153676.3 2675 Missense Mutation ATA,GTA I856V NP_710142.1
XM_011519832.2 2675 Intron XP_011518134.1
XM_011519834.2 2675 Intron XP_011518136.1
XM_017017072.1 2675 Intron XP_016872561.1
XM_017017073.1 2675 Intron XP_016872562.1
XM_017017074.1 2675 Intron XP_016872563.1
XM_017017075.1 2675 Missense Mutation ATA,GTA I856V XP_016872564.1

View Full Product Details