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CGGAGGGGCTGAGAGCTAGAGAGGA[C/T]GGGTGTGTGCTGCTGGGAGCGAGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613190 MIM: 604905 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAAF1 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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DNAAF1 - dynein axonemal assembly factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318756.1 | 2817 | Intron | NP_001305685.1 | |||
NM_178452.5 | 2817 | Intron | NP_848547.4 | |||
XM_006721129.2 | 2817 | Intron | XP_006721192.1 | |||
XM_011522853.2 | 2817 | Intron | XP_011521155.1 | |||
XM_011522854.2 | 2817 | Intron | XP_011521156.1 | |||
XM_011522855.2 | 2817 | Intron | XP_011521157.1 | |||
XM_011522857.2 | 2817 | Intron | XP_011521159.1 | |||
XM_011522858.2 | 2817 | Intron | XP_011521160.1 | |||
XM_017022918.1 | 2817 | Intron | XP_016878407.1 | |||
XM_017022919.1 | 2817 | Intron | XP_016878408.1 | |||
XM_017022920.1 | 2817 | Intron | XP_016878409.1 | |||
XM_017022921.1 | 2817 | Intron | XP_016878410.1 | |||
XM_017022922.1 | 2817 | Intron | XP_016878411.1 |
TAF1C - TATA-box binding protein associated factor, RNA polymerase I subunit C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243156.1 | 2817 | Missense Mutation | ATC,GTC | I,V 828 | NP_001230085.1 | |
NM_001243157.1 | 2817 | Missense Mutation | ATC,GTC | I,V 522 | NP_001230086.1 | |
NM_001243158.1 | 2817 | Missense Mutation | ATC,GTC | I,V 522 | NP_001230087.1 | |
NM_001243159.1 | 2817 | Missense Mutation | ATC,GTC | I,V 445 | NP_001230088.1 | |
NM_001243160.1 | 2817 | Missense Mutation | ATC,GTC | I,V 377 | NP_001230089.1 | |
NM_005679.3 | 2817 | Missense Mutation | ATC,GTC | I,V 854 | NP_005670.3 | |
NM_139353.2 | 2817 | Missense Mutation | ATC,GTC | I,V 760 | NP_647610.2 | |
XM_005256226.3 | 2817 | Missense Mutation | ATC,GTC | I,V 854 | XP_005256283.1 | |
XM_005256227.3 | 2817 | Missense Mutation | ATC,GTC | I,V 787 | XP_005256284.1 | |
XM_006721325.3 | 2817 | Missense Mutation | ATC,GTC | I,V 855 | XP_006721388.1 | |
XM_006721326.3 | 2817 | Missense Mutation | ATC,GTC | I,V 829 | XP_006721389.1 | |
XM_017023845.1 | 2817 | Missense Mutation | ATC,GTC | I,V 828 | XP_016879334.1 | |
XM_017023846.1 | 2817 | Missense Mutation | ATC,GTC | I,V 787 | XP_016879335.1 | |
XM_017023847.1 | 2817 | Missense Mutation | ATC,GTC | I,V 761 | XP_016879336.1 | |
XM_017023848.1 | 2817 | Missense Mutation | ATC,GTC | I,V 522 | XP_016879337.1 |