Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAGCAGTGGCAGAAGCAGCCGCGC[C/T]GGGACTTGTGGGCAGGGTCTGGCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615288 MIM: 603681 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DRC1 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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DRC1 - dynein regulatory complex subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_145038.4 | 4417 | Intron | NP_659475.2 | |||
XM_005264637.3 | 4417 | Intron | XP_005264694.1 | |||
XM_005264638.3 | 4417 | Intron | XP_005264695.1 | |||
XM_017005271.1 | 4417 | Intron | XP_016860760.1 |
OTOF - otoferlin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287489.1 | 4417 | UTR 3 | NP_001274418.1 | |||
NM_004802.3 | 4417 | UTR 3 | NP_004793.2 | |||
NM_194248.2 | 4417 | UTR 3 | NP_919224.1 | |||
NM_194322.2 | 4417 | UTR 3 | NP_919303.1 | |||
NM_194323.2 | 4417 | UTR 3 | NP_919304.1 | |||
XM_017005338.1 | 4417 | Intron | XP_016860827.1 |