Product Details

SNP ID
rs11024309
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:17495101 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCAAGTGTGGGGGCCATGGTGG[A/G]GCAAGAGCTCCCAGGAGGTTGGCAT
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 3232 Intron NP_001284693.1
NM_005709.3 3232 Intron NP_005700.2
NM_153676.3 3232 Intron NP_710142.1
XM_011519832.2 3232 Intron XP_011518134.1
XM_011519834.2 3232 Intron XP_011518136.1
XM_017017072.1 3232 Intron XP_016872561.1
XM_017017073.1 3232 Intron XP_016872562.1
XM_017017074.1 3232 Intron XP_016872563.1
XM_017017075.1 3232 UTR 3 XP_016872564.1

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