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GAGGGAGAAGCAGATGTCCCCAAGC[G/T]TCTCCTGCTGAAAGGAGAGGGGCCC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1083 | Missense Mutation | AAG,ACG | K,T 235 | NP_001284703.1 | |
NM_003180.2 | 1083 | Missense Mutation | AAG,ACG | K,T 239 | NP_003171.2 | |
XM_006723339.3 | 1083 | Missense Mutation | AAG,ACG | K,T 239 | XP_006723402.1 | |
XM_006723340.3 | 1083 | Missense Mutation | AAG,ACG | K,T 238 | XP_006723403.1 | |
XM_006723341.3 | 1083 | Missense Mutation | AAG,ACG | K,T 236 | XP_006723404.1 | |
XM_017027175.1 | 1083 | Missense Mutation | AAG,ACG | K,T 239 | XP_016882664.1 | |
XM_017027176.1 | 1083 | Missense Mutation | AAG,ACG | K,T 239 | XP_016882665.1 |