Product Details

SNP ID
rs146115619
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:30877615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTTACCAGAGGCTTGGACATCAG[C/G]AAAGAGAAAGCAGATGTCCTCTGCC
Phenotype
MIM: 603196
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
COCH PubMed Links

Gene Details

Gene
COCH
Gene Name
cochlin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135058.1 579 Silent Mutation AGC,AGG S42R NP_001128530.1
NM_004086.2 579 Silent Mutation AGC,AGG S42R NP_004077.1
XM_017021071.1 579 Silent Mutation AGC,AGG S107R XP_016876560.1
XM_017021072.1 579 Silent Mutation AGC,AGG S107R XP_016876561.1
XM_017021073.1 579 Intron XP_016876562.1
Gene
LOC100506071
Gene Name
uncharacterized LOC100506071
There are no transcripts associated with this gene.

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