Product Details

SNP ID
rs1055577
Assay Type
Validated
NCBI dbSNP Submissions
NA
Location
Chr.11:17494146 on Build GRCh38
Set Membership
HapMap Validated
Context Sequence [VIC/FAM]
TGGCTGGCTGCTCCCTTTCCTCCAC[A/G]TTGGCCTTCAGAAGAGTGGCCCGAG
Phenotype
MIM: 605242
Polymorphism
A/G, 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 2139 UTR 3 NP_001284693.1
NM_005709.3 2139 UTR 3 NP_005700.2
NM_153676.3 2139 UTR 3 NP_710142.1
XM_011519832.2 2139 UTR 3 XP_011518134.1
XM_011519834.2 2139 Intron XP_011518136.1
XM_017017072.1 2139 Intron XP_016872561.1
XM_017017073.1 2139 Intron XP_016872562.1
XM_017017074.1 2139 Intron XP_016872563.1
XM_017017075.1 2139 Intron XP_016872564.1

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