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CCATCGTCTTCAGCATCTCGTTTCC[C/T]CTTCTCCCCTCGAAGACCTCCTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 609611 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ANP32E 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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ANP32E - acidic nuclear phosphoprotein 32 family member E | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136478.3 | 912 | Missense Mutation | AGG,GGG | R,G 214 | NP_001129950.1 | |
NM_001136479.2 | 912 | Missense Mutation | AGG,GGG | R,G 207 | NP_001129951.1 | |
NM_001280559.1 | 912 | Missense Mutation | AGG,GGG | R,G 254 | NP_001267488.1 | |
NM_001280560.1 | 912 | UTR 3 | NP_001267489.1 | |||
NM_030920.4 | 912 | Missense Mutation | AGG,GGG | R,G 255 | NP_112182.1 | |
XM_005245513.3 | 912 | Missense Mutation | AGG,GGG | R,G 273 | XP_005245570.1 | |
XM_005245514.3 | 912 | Silent Mutation | AGA,AGG | R,R 236 | XP_005245571.1 | |
XM_017002418.1 | 912 | Missense Mutation | AGG,GGG | R,G 272 | XP_016857907.1 |