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TATAAAACGTTCTGAACTACCTCTG[C/T]GAGGTGACATTGTCTTCTTTCTTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
5 submissions
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Phenotype: |
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Literature Links: |
PRUNE1 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 |
PRUNE1 - prune exopolyphosphatase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303229.1 | 438 | Intron | NP_001290158.1 | |||
NM_001303242.1 | 438 | Nonsense Mutation | CGA,TGA | R,* 66 | NP_001290171.1 | |
NM_001303243.1 | 438 | UTR 5 | NP_001290172.1 | |||
NM_021222.2 | 438 | Nonsense Mutation | CGA,TGA | R,* 66 | NP_067045.1 | |
XM_005245393.4 | 438 | Intron | XP_005245450.1 | |||
XM_011509832.2 | 438 | Intron | XP_011508134.1 | |||
XM_017001955.1 | 438 | Intron | XP_016857444.1 | |||
XM_017001956.1 | 438 | Intron | XP_016857445.1 | |||
XM_017001957.1 | 438 | Intron | XP_016857446.1 |