Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAAAGAGAAAGCAGATGTCCTCTGC[C/T]CAGGGGGCTGCCCTCTTGAGGAATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 603196 | ||||||||||||||||||||
Literature Links: |
COCH PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
COCH - cochlin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135058.1 | 604 | Missense Mutation | CCA,TCA | P,S 51 | NP_001128530.1 | |
NM_004086.2 | 604 | Missense Mutation | CCA,TCA | P,S 51 | NP_004077.1 | |
XM_017021071.1 | 604 | Missense Mutation | CCA,TCA | P,S 116 | XP_016876560.1 | |
XM_017021072.1 | 604 | Missense Mutation | CCA,TCA | P,S 116 | XP_016876561.1 | |
XM_017021073.1 | 604 | Intron | XP_016876562.1 |
LOC100506071 - uncharacterized LOC100506071 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |