Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTAGTTATCTAGTGTAGAATCCTTC[A/T]GAGATATTTCAGTCTCTCTCTCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603620 MIM: 602348 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PSIP1 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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PSIP1 - PC4 and SFRS1 interacting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128217.2 | 3263 | Missense Mutation | CAG,CTG | Q,L 523 | NP_001121689.1 | |
NM_001317898.1 | 3263 | Intron | NP_001304827.1 | |||
NM_001317900.1 | 3263 | Intron | NP_001304829.1 | |||
NM_021144.3 | 3263 | Intron | NP_066967.3 | |||
NM_033222.4 | 3263 | Missense Mutation | CAG,CTG | Q,L 523 | NP_150091.2 |
SNAPC3 - small nuclear RNA activating complex polypeptide 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039697.1 | 3263 | Intron | NP_001034786.1 | |||
XM_017015056.1 | 3263 | UTR 3 | XP_016870545.1 | |||
XM_017015057.1 | 3263 | UTR 3 | XP_016870546.1 |