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CAACCATGGGGACTGGGTGCATATC[A/T]TCCCAGAAGGTCAGCAGGGCTGACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300197 MIM: 300081 MIM: 300394 | ||||||||||||||||||||
Literature Links: |
ATP6AP1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
ATP6AP1 - ATPase H+ transporting accessory protein 1 | ||||||
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There are no transcripts associated with this gene. |
CH17-340M24.3 - uncharacterized protein BC009467 | ||||||
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There are no transcripts associated with this gene. |
DNASE1L1 - deoxyribonuclease I-like 1 | ||||||
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There are no transcripts associated with this gene. |
TAZ - tafazzin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000116.4 | 858 | Missense Mutation | ATC,TTC | I,F 178 | NP_000107.1 | |
NM_001303465.1 | 858 | Missense Mutation | ATC,TTC | I,F 196 | NP_001290394.1 | |
NM_181311.3 | 858 | Missense Mutation | ATC,TTC | I,F 148 | NP_851828.1 | |
NM_181312.3 | 858 | Missense Mutation | ATC,TTC | I,F 178 | NP_851829.1 | |
NM_181313.3 | 858 | Missense Mutation | ATC,TTC | I,F 148 | NP_851830.1 |