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CCAATCTACAGGAAACATTAAAAGA[C/G]AGACAGGTTTGCTTCTAATACGATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603337 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAH8 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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DNAH8 - dynein axonemal heavy chain 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001206927.1 | 504 | Missense Mutation | GAC,GAG | D,E 128 | NP_001193856.1 | |
XM_011514318.2 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_011512620.1 | |
XM_011514319.2 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_011512621.1 | |
XM_011514320.2 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_011512622.1 | |
XM_011514321.1 | 504 | Intron | XP_011512623.1 | |||
XM_017010325.1 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_016865814.1 | |
XM_017010326.1 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_016865815.1 | |
XM_017010327.1 | 504 | Missense Mutation | GAC,GAG | D,E 128 | XP_016865816.1 |