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TTTATTATGTCTCTCCCGAAAACGC[C/T]CTCCACCCCGCTAAACTCTACATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 102642 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AXDND1 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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AXDND1 - axonemal dynein light chain domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144696.5 | 386 | Missense Mutation | CCC,CTC | P,L 7 | NP_653297.3 | |
XM_011509165.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507467.1 | |
XM_011509166.2 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507468.1 | |
XM_011509167.2 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507469.1 | |
XM_011509168.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507470.1 | |
XM_011509169.1 | 386 | Intron | XP_011507471.1 | |||
XM_011509170.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507472.1 | |
XM_011509171.1 | 386 | Intron | XP_011507473.1 | |||
XM_011509174.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507476.1 | |
XM_011509175.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507477.1 | |
XM_011509176.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507478.1 | |
XM_011509178.2 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507480.1 | |
XM_011509179.2 | 386 | Intron | XP_011507481.1 | |||
XM_011509180.1 | 386 | Missense Mutation | CCC,CTC | P,L 7 | XP_011507482.1 | |
XM_011509181.2 | 386 | Intron | XP_011507483.1 | |||
XM_017000257.1 | 386 | Intron | XP_016855746.1 | |||
XM_017000258.1 | 386 | Intron | XP_016855747.1 | |||
XM_017000259.1 | 386 | Intron | XP_016855748.1 |
SOAT1 - sterol O-acyltransferase 1 | ||||||
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There are no transcripts associated with this gene. |