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CCTTCATCCTTGCCTCTCACCTTTC[A/G]TAAGCACAGCCAGACGTTCCCCACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605378 MIM: 611366 MIM: 604899 | ||||||||||||||||||||
Literature Links: |
AAAS 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 |
AAAS - aladin WD repeat nucleoporin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173466.1 | 1339 | Missense Mutation | ACG,ATG | T,M 382 | NP_001166937.1 | |
NM_015665.5 | 1339 | Missense Mutation | ACG,ATG | T,M 415 | NP_056480.1 | |
XM_011538778.1 | 1339 | Missense Mutation | ACG,ATG | T,M 415 | XP_011537080.1 | |
XM_011538780.1 | 1339 | Missense Mutation | ACG,ATG | T,M 382 | XP_011537082.1 |
C12orf10 - chromosome 12 open reading frame 10 | ||||||
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There are no transcripts associated with this gene. |
PFDN5 - prefoldin subunit 5 | ||||||
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There are no transcripts associated with this gene. |