Product Details

SNP ID
rs62640381
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:26460081 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGCACAGAGTAGAGGAACAGGG[A/C]GAGGAGGAGGAGCAGCAGCAGGAGC
Phenotype
MIM: 615288 MIM: 603681
Polymorphism
A/C, Transversion 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 4017 Intron NP_001274418.1
NM_004802.3 4017 Missense Mutation NP_004793.2
NM_194248.2 4017 Missense Mutation NP_919224.1
NM_194322.2 4017 Missense Mutation NP_919303.1
NM_194323.2 4017 Intron NP_919304.1
XM_017005338.1 4017 Missense Mutation XP_016860827.1

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