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GCAATCGTGGCCTTATGTCATTTCC[A/G]AAGACCTGATGTCTCTGTCCAAGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606180 | ||||||||||||||||||||
Literature Links: |
EXOSC9 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 |
EXOSC9 - exosome component 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001034194.1 | 590 | Missense Mutation | CAA,CGA | Q,R 161 | NP_001029366.1 | |
NM_005033.2 | 590 | Missense Mutation | CAA,CGA | Q,R 161 | NP_005024.2 | |
XM_011532035.2 | 590 | Missense Mutation | CAA,CGA | Q,R 161 | XP_011530337.1 |