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ACTGAATCTTCAAGTAAAGAAAAAT[C/T]AGATTCTAATTCTAATTGTTTGTCT
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 614412 | |||||||||||||||||||||||
Literature Links: |
TOPAZ1 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 - 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 |
TOPAZ1 - testis and ovary specific PAZ domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145030.1 | 1862 | Missense Mutation | TCA,TTA | S,L 565 | NP_001138502.1 | |
XM_011533694.2 | 1862 | Missense Mutation | TCA,TTA | S,L 565 | XP_011531996.1 | |
XM_017006361.1 | 1862 | Missense Mutation | TCA,TTA | S,L 565 | XP_016861850.1 | |
XM_017006362.1 | 1862 | Missense Mutation | TCA,TTA | S,L 565 | XP_016861851.1 |