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TTCCTCCAGTTTTCCTTCCAGCAGG[A/G]TGGATGGGGAGCATCGCTGGCTGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606029 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CPSF3 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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CPSF3 - cleavage and polyadenylation specific factor 3 | ||||||
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There are no transcripts associated with this gene. |
IAH1 - isoamyl acetate-hydrolyzing esterase 1 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039613.2 | 236 | Missense Mutation | GAT,GGT | D,G 33 | NP_001034702.1 | |
NM_001320858.1 | 236 | Missense Mutation | GAT,GGT | D,G 8 | NP_001307787.1 | |
NM_001320859.1 | 236 | Intron | NP_001307788.1 | |||
NM_001320860.1 | 236 | Intron | NP_001307789.1 | |||
NM_001320863.1 | 236 | UTR 5 | NP_001307792.1 | |||
XM_017003878.1 | 236 | Intron | XP_016859367.1 |