Product Details

SNP ID
rs140487814
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:30895745 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGAGCTACCATAGAATGGATCATT[C/T]TACCTAAACAAAACATAACAGAGAA
Phenotype
MIM: 603196 MIM: 614766
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COCH PubMed Links

Gene Details

Gene
COCH
Gene Name
cochlin
There are no transcripts associated with this gene.

Gene
LOC100506071
Gene Name
uncharacterized LOC100506071
There are no transcripts associated with this gene.

Gene
STRN3
Gene Name
striatin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001083893.1 2357 Missense Mutation AAA,AGA K714R NP_001077362.1
NM_014574.3 2357 Missense Mutation AAA,AGA K630R NP_055389.3
XM_005267569.3 2357 Missense Mutation AAA,AGA K677R XP_005267626.1
XM_005267570.3 2357 Missense Mutation AAA,AGA K667R XP_005267627.1

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