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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)
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EAS
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African American - Not Available | YRI (Yoruba) - Not Available | ||||||
SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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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 | 3842 | Intron | NP_001284693.1 | |||
NM_005709.3 | 3842 | Intron | NP_005700.2 | |||
NM_153676.3 | 3842 | Intron | NP_710142.1 | |||
XM_011519832.2 | 3842 | Intron | XP_011518134.1 | |||
XM_011519834.2 | 3842 | Intron | XP_011518136.1 | |||
XM_017017072.1 | 3842 | Intron | XP_016872561.1 | |||
XM_017017073.1 | 3842 | Intron | XP_016872562.1 | |||
XM_017017074.1 | 3842 | Intron | XP_016872563.1 | |||
XM_017017075.1 | 3842 | UTR 3 | XP_016872564.1 |
Set Membership: |
HapMap |