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GATTCAGGTCCCAAGGATGCCATCT[G/T]GTGTGTGTAGTGTGGCCTCTCTCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605242 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
USH1C PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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USH1C - USH1 protein network component harmonin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297764.1 | 2030 | UTR 3 | NP_001284693.1 | |||
NM_005709.3 | 2030 | UTR 3 | NP_005700.2 | |||
NM_153676.3 | 2030 | UTR 3 | NP_710142.1 | |||
XM_011519832.2 | 2030 | UTR 3 | XP_011518134.1 | |||
XM_011519834.2 | 2030 | Intron | XP_011518136.1 | |||
XM_017017072.1 | 2030 | Intron | XP_016872561.1 | |||
XM_017017073.1 | 2030 | Intron | XP_016872562.1 | |||
XM_017017074.1 | 2030 | Intron | XP_016872563.1 | |||
XM_017017075.1 | 2030 | Intron | XP_016872564.1 |