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SNP ID

rs7482959

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:17549310 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGGGGAGCCCCTTGAGCCAGCA[C/G]ATTGGGGAGAATCGTTTATGACAGC

Phenotype

MIM: 604487 MIM: 605242

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

OTOG PubMed Links

Gene Details

Gene

OTOG

Gene Name

otogelin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001277269.1		Intron			NP_001264198.1
NM_001292063.1		Intron			NP_001278992.1

Gene

USH1C

Gene Name

USH1 protein network component harmonin

There are no transcripts associated with this gene.

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