Product Details

SNP ID
rs148102471
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:30877682 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGAATTCTCTGTGTATGGGAAC[A/G]TAGTATATGCTTCTGTATCGAGCAT
Phenotype
MIM: 603196
Polymorphism
A/G, Transition 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_001135058.1 646 Missense Mutation ATA,GTA I65V NP_001128530.1
NM_004086.2 646 Missense Mutation ATA,GTA I65V NP_004077.1
XM_017021071.1 646 Missense Mutation ATA,GTA I130V XP_016876560.1
XM_017021072.1 646 Missense Mutation ATA,GTA I130V XP_016876561.1
XM_017021073.1 646 Intron XP_016876562.1
Gene
LOC100506071
Gene Name
uncharacterized LOC100506071
There are no transcripts associated with this gene.

View Full Product Details