Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGAGATGATTCCTGCTTCTGCGAAG[G/T]CTCCCCATAAACAGCCTCATAAGCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604366 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAI1 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) - Not Available | ||||||
SAS
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Chinese - Not Available | CHB (Han Chinese)
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AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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DNAI1 - dynein axonemal intermediate chain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001281428.1 | 276 | Missense Mutation | GCT,TCT | A,S 8 | NP_001268357.1 | |
NM_012144.3 | 276 | Missense Mutation | GCT,TCT | A,S 8 | NP_036276.1 | |
XM_006716758.3 | 276 | Intron | XP_006716821.1 | |||
XM_011517846.1 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_011516148.1 | |
XM_011517847.2 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_011516149.1 | |
XM_011517848.1 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_011516150.1 | |
XM_011517849.1 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_011516151.1 | |
XM_011517850.2 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_011516152.1 | |
XM_017014625.1 | 276 | Missense Mutation | GCT,TCT | A,S 8 | XP_016870114.1 |
FAM219A - family with sequence similarity 219 member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184940.1 | 276 | Intron | NP_001171869.1 | |||
NM_001184941.1 | 276 | Intron | NP_001171870.1 | |||
NM_001184942.1 | 276 | Intron | NP_001171871.1 | |||
NM_001184943.1 | 276 | Intron | NP_001171872.1 | |||
NM_001184945.1 | 276 | Intron | NP_001171874.1 | |||
NM_147202.1 | 276 | Intron | NP_671735.1 | |||
XM_005251402.4 | 276 | Intron | XP_005251459.1 | |||
XM_011517797.2 | 276 | Intron | XP_011516099.1 | |||
XM_011517798.2 | 276 | Intron | XP_011516100.1 | |||
XM_011517799.2 | 276 | Intron | XP_011516101.1 |
Set Membership: |
HapMap |