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ATAAATAGAACCGCCTTAAGAGAGA[G/T]AAAATTATTACAGGAGCTAAGTCAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601955 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CDK7 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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CDK7 - cyclin dependent kinase 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001324069.1 | 335 | Missense Mutation | AGA,ATA | R,I 22 | NP_001310998.1 | |
NM_001324070.1 | 335 | Intron | NP_001310999.1 | |||
NM_001324071.1 | 335 | Intron | NP_001311000.1 | |||
NM_001324072.1 | 335 | UTR 5 | NP_001311001.1 | |||
NM_001324074.1 | 335 | UTR 5 | NP_001311003.1 | |||
NM_001324075.1 | 335 | UTR 5 | NP_001311004.1 | |||
NM_001324077.1 | 335 | UTR 5 | NP_001311006.1 | |||
NM_001324078.1 | 335 | UTR 5 | NP_001311007.1 | |||
NM_001799.3 | 335 | Missense Mutation | AGA,ATA | R,I 63 | NP_001790.1 | |
XM_011543094.2 | 335 | Intron | XP_011541396.1 |