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AATAGGGGTTCAGAGTGTTCTTCTT[C/G]ATGGTGGTTTTCTTCTTCCGCACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614566 MIM: 602510 MIM: 600782 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DNAAF3 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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DNAAF3 - dynein axonemal assembly factor 3 | ||||||
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There are no transcripts associated with this gene. |
PTPRH - protein tyrosine phosphatase, receptor type H | ||||||
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There are no transcripts associated with this gene. |
SYT5 - synaptotagmin 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297774.1 | 1258 | Missense Mutation | ATC,ATG | I,M 293 | NP_001284703.1 | |
NM_003180.2 | 1258 | Missense Mutation | ATC,ATG | I,M 297 | NP_003171.2 | |
XM_006723339.3 | 1258 | Missense Mutation | ATC,ATG | I,M 297 | XP_006723402.1 | |
XM_006723340.3 | 1258 | Missense Mutation | ATC,ATG | I,M 296 | XP_006723403.1 | |
XM_006723341.3 | 1258 | Missense Mutation | ATC,ATG | I,M 294 | XP_006723404.1 | |
XM_017027175.1 | 1258 | Missense Mutation | ATC,ATG | I,M 297 | XP_016882664.1 | |
XM_017027176.1 | 1258 | Missense Mutation | ATC,ATG | I,M 297 | XP_016882665.1 |