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CATTCAGGATGGGCTCCTGGTGCCT[A/G]GAGACCTGGGGAAGGGGAACACCGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605165 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PATZ1 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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PATZ1 - POZ/BTB and AT hook containing zinc finger 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014323.2 | 2239 | Silent Mutation | TCC,TCT | S,S 526 | NP_055138.2 | |
NM_032050.1 | 2239 | Intron | NP_114439.1 | |||
NM_032051.1 | 2239 | Intron | NP_114440.1 | |||
NM_032052.1 | 2239 | Nonsense Mutation | CAG,TAG | Q,* 505 | NP_114441.1 |
PIK3IP1-AS1 - PIK3IP1 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |