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TTTAAAGGAGAATGGAGAAAACTTG[G/T]AACCATCCCCGACATAGAACTTGTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605239 MIM: 611700 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP6V0A4 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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ATP6V0A4 - ATPase H+ transporting V0 subunit a4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020632.2 | 2706 | Missense Mutation | TAC,TCC | Y,S 823 | NP_065683.2 | |
NM_130840.2 | 2706 | Missense Mutation | TAC,TCC | Y,S 823 | NP_570855.2 | |
NM_130841.2 | 2706 | Missense Mutation | TAC,TCC | Y,S 823 | NP_570856.2 | |
XM_005250393.1 | 2706 | Missense Mutation | TAC,TCC | Y,S 823 | XP_005250450.1 | |
XM_005250394.3 | 2706 | Missense Mutation | TAC,TCC | Y,S 823 | XP_005250451.1 |
SVOPL - SVOP like | ||||||
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There are no transcripts associated with this gene. |