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GCCCCCTGAGTCGATGGGCCGAGGC[C/T]GAGACTGGAATGTTGACCTGATTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300197 MIM: 300453 MIM: 300104 | ||||||||||||||||||||
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. |
FAM50A - family with sequence similarity 50 member A | ||||||
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There are no transcripts associated with this gene. |
GDI1 - GDP dissociation inhibitor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001493.2 | 550 | Nonsense Mutation | CGA,TGA | R,* 70 | NP_001484.1 |