Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGTTGGACAGTCTCTGGAATCCGC[A/C]TGTAAGTGTGTGGGTTCTGGGATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CDRT4 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)
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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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CDRT4 - CMT1A duplicated region transcript 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204477.1 | 647 | Missense Mutation | CAG,CAT | Q,H 122 | NP_001191406.1 |
TVP23C-CDRT4 - TVP23C-CDRT4 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204478.1 | 647 | UTR 3 | NP_001191407.1 |