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TCTGCCACCATGGGGGAGCTTTTCC[A/G]GAGTGAAGAAATGACACTGGCCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 192130 | ||||||||||||||||||||
Literature Links: |
ATP6V0A1 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 |
ATP6V0A1 - ATPase H+ transporting V0 subunit a1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130020.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | NP_001123492.1 | |
NM_001130021.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | NP_001123493.1 | |
NM_005177.3 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | NP_005168.2 | |
XM_005257459.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_005257516.1 | |
XM_005257461.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_005257518.1 | |
XM_005257463.2 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_005257520.1 | |
XM_011524908.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_011523210.1 | |
XM_017024766.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880255.1 | |
XM_017024767.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880256.1 | |
XM_017024768.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880257.1 | |
XM_017024769.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880258.1 | |
XM_017024770.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880259.1 | |
XM_017024771.1 | 129 | Missense Mutation | CAG,CGG | Q,R 6 | XP_016880260.1 | |
XM_017024772.1 | 129 | Intron | XP_016880261.1 | |||
XM_017024773.1 | 129 | Intron | XP_016880262.1 | |||
XM_017024774.1 | 129 | UTR 5 | XP_016880263.1 |