Product Details

SNP ID
rs148172611
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:26562694 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGGACTCATGCCCGGGTAAGGC[C/T]GAGGGAGCGCCTCCTCCCCTCCCCC
Phenotype
MIM: 603681
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C2orf70 PubMed Links

Gene Details

Gene
C2orf70
Gene Name
chromosome 2 open reading frame 70
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105519.2 Intron NP_001098989.1
NM_001322426.1 Intron NP_001309355.1
XM_011532810.2 Intron XP_011531112.1
XM_011532811.2 Intron XP_011531113.1
XM_017003962.1 Intron XP_016859451.1
XM_017003963.1 Intron XP_016859452.1
XM_017003964.1 Intron XP_016859453.1
XM_017003965.1 Intron XP_016859454.1
XM_017003966.1 Intron XP_016859455.1
Gene
OTOF
Gene Name
otoferlin
There are no transcripts associated with this gene.

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