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AAGGTGAGTAGGGGAGTTCCTGTCT[A/G]GGTGGGCTGGGTCCAAGGGTCACAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603477 MIM: 607075 MIM: 614774 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP5J2-PTCD1 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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ATP5J2-PTCD1 - ATP5J2-PTCD1 readthrough | ||||||
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There are no transcripts associated with this gene. |
BUD31 - BUD31 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003910.3 | Intron | NP_003901.2 | ||||
XM_005250670.4 | Intron | XP_005250727.1 | ||||
XM_005250671.4 | Intron | XP_005250728.1 | ||||
XM_005250674.3 | Intron | XP_005250731.1 | ||||
XM_017012760.1 | Intron | XP_016868249.1 | ||||
XM_017012761.1 | Intron | XP_016868250.1 | ||||
XM_017012762.1 | Intron | XP_016868251.1 |
PDAP1 - PDGFA associated protein 1 | ||||||
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There are no transcripts associated with this gene. |
PTCD1 - pentatricopeptide repeat domain 1 | ||||||
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There are no transcripts associated with this gene. |