Product Details

SNP ID

rs78473089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:26459718 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTGAGCAAGCTACTTCACCTCT[C/T]TGGCTTAATGTGGAAAAGTGTAAAA

Phenotype

MIM: 615288 MIM: 603681

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DRC1 PubMed Links

Gene Details

Gene

DRC1

Gene Name

dynein regulatory complex subunit 1

There are no transcripts associated with this gene.

Gene

OTOF

Gene Name

otoferlin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287489.1		Intron			NP_001274418.1
NM_004802.3		Intron			NP_004793.2
NM_194248.2		Intron			NP_919224.1
NM_194322.2		Intron			NP_919303.1
NM_194323.2		Intron			NP_919304.1
XM_017005338.1		Intron			XP_016860827.1

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