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AAATCTCCATCAGATCTAGGTCAGC[A/T]TCTTCAAAGCCATAGAAAGACTCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 614787 MIM: 602177 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
POGZ 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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POGZ - pogo transposable element with ZNF domain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001194937.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1393 | NP_001181866.1 | |
NM_001194938.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1340 | NP_001181867.1 | |
NM_015100.3 | 5080 | Missense Mutation | GAA,GAT | E,D 1402 | NP_055915.2 | |
NM_145796.3 | 5080 | Missense Mutation | GAA,GAT | E,D 1307 | NP_665739.3 | |
NM_207171.2 | 5080 | Missense Mutation | GAA,GAT | E,D 1349 | NP_997054.1 | |
XM_005244999.2 | 5080 | Missense Mutation | GAA,GAT | E,D 1402 | XP_005245056.1 | |
XM_005245000.4 | 5080 | Missense Mutation | GAA,GAT | E,D 1402 | XP_005245057.1 | |
XM_005245001.2 | 5080 | Missense Mutation | GAA,GAT | E,D 1402 | XP_005245058.1 | |
XM_005245005.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1349 | XP_005245062.1 | |
XM_005245006.4 | 5080 | Missense Mutation | GAA,GAT | E,D 1349 | XP_005245063.1 | |
XM_011509331.2 | 5080 | Missense Mutation | GAA,GAT | E,D 1283 | XP_011507633.1 | |
XM_017000744.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1409 | XP_016856233.1 | |
XM_017000745.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1393 | XP_016856234.1 | |
XM_017000746.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1393 | XP_016856235.1 | |
XM_017000747.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1353 | XP_016856236.1 | |
XM_017000748.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1349 | XP_016856237.1 | |
XM_017000749.1 | 5080 | Missense Mutation | GAA,GAT | E,D 1349 | XP_016856238.1 |
PSMB4 - proteasome subunit beta 4 | ||||||
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There are no transcripts associated with this gene. |