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CTGGCTCTGTGGAGAGAGTAAACAA[G/T]TTGATCTGTGTGAAAGCTTTGAAAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602238 | ||||||||||||||||||||
Literature Links: |
EXOSC2 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 |
EXOSC2 - exosome component 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282708.1 | 227 | Missense Mutation | AAG,AAT | K,N 65 | NP_001269637.1 | |
NM_001282709.1 | 227 | Missense Mutation | AAG,AAT | K,N 65 | NP_001269638.1 | |
NM_014285.6 | 227 | Missense Mutation | AAG,AAT | K,N 65 | NP_055100.2 | |
XM_005272176.2 | 227 | UTR 5 | XP_005272233.1 | |||
XM_006717023.2 | 227 | UTR 5 | XP_006717086.1 | |||
XM_017014558.1 | 227 | UTR 5 | XP_016870047.1 |