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CGCTCAGATTTGCTTGGGGGAGAAA[C/G]CCAAAGAGGAGATGCATCGCGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608073 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NPM2 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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NPM2 - nucleophosmin/nucleoplasmin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286680.1 | 817 | Missense Mutation | CCC,GCC | P,A 55 | NP_001273609.1 | |
NM_001286681.1 | 817 | Missense Mutation | CCC,GCC | P,A 55 | NP_001273610.1 | |
NM_182795.1 | 817 | Missense Mutation | CCC,GCC | P,A 55 | NP_877724.1 | |
XM_011544360.2 | 817 | Missense Mutation | CCC,GCC | P,A 130 | XP_011542662.1 | |
XM_011544362.2 | 817 | Missense Mutation | CCC,GCC | P,A 55 | XP_011542664.1 | |
XM_011544363.2 | 817 | Missense Mutation | CCC,GCC | P,A 55 | XP_011542665.1 | |
XM_011544364.2 | 817 | UTR 5 | XP_011542666.1 | |||
XM_017012947.1 | 817 | Intron | XP_016868436.1 | |||
XM_017012948.1 | 817 | Missense Mutation | CCC,GCC | P,A 55 | XP_016868437.1 | |
XM_017012949.1 | 817 | Missense Mutation | CCC,GCC | P,A 55 | XP_016868438.1 | |
XM_017012950.1 | 817 | Intron | XP_016868439.1 |