Search Thermo Fisher Scientific
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ACAGGGGGCCCCTTGTCAATCCATT[C/G]CTGGAGAGCCACAGAAATCAAGATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603334 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAH3 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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DNAH3 - dynein axonemal heavy chain 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017539.2 | 12438 | Missense Mutation | CAA,GAA | Q,E 3954 | NP_060009.1 | |
XM_006721062.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3908 | XP_006721125.1 | |
XM_011545882.2 | 12438 | Missense Mutation | CAA,GAA | Q,E 3915 | XP_011544184.1 | |
XM_011545883.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3915 | XP_011544185.1 | |
XM_011545885.2 | 12438 | Intron | XP_011544187.1 | |||
XM_011545886.2 | 12438 | Missense Mutation | CAA,GAA | Q,E 3578 | XP_011544188.1 | |
XM_011545888.2 | 12438 | Missense Mutation | CAA,GAA | Q,E 3049 | XP_011544190.1 | |
XM_011545889.2 | 12438 | Missense Mutation | CAA,GAA | Q,E 3049 | XP_011544191.1 | |
XM_017023426.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3870 | XP_016878915.1 | |
XM_017023427.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3834 | XP_016878916.1 | |
XM_017023428.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3722 | XP_016878917.1 | |
XM_017023429.1 | 12438 | Intron | XP_016878918.1 | |||
XM_017023430.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 1933 | XP_016878919.1 | |
XM_017023431.1 | 12438 | Intron | XP_016878920.1 | |||
XM_017023432.1 | 12438 | Missense Mutation | CAA,GAA | Q,E 3968 | XP_016878921.1 |