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GCACTGCCCAGGCTGTCATCGTCCA[G/T]GCTGGGGGAGCTCTGCAGCCGACCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607827 MIM: 607696 | ||||||||||||||||||||
Literature Links: |
OTOP2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
OTOP2 - otopetrin 2 | ||||||
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There are no transcripts associated with this gene. |
USH1G - USH1 protein network component sans | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282489.2 | 1217 | Missense Mutation | ATG,CTG | M,L 249 | NP_001269418.1 | |
NM_173477.4 | 1217 | Missense Mutation | ATG,CTG | M,L 352 | NP_775748.2 | |
XM_011524296.2 | 1217 | Missense Mutation | ATG,CTG | M,L 249 | XP_011522598.1 |