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Search Thermo Fisher Scientific
GGTAGGGAAAGCCCCGCCTCCTACA[A/G]GTGCCGTGGAGCCACGCCCAAAAGA
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611099 | ||||||||||||||||||||||||||||||||
Literature Links: |
ATP6V1C2 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
ATP6V1C2 - ATPase H+ transporting V1 subunit C2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039362.1 | 2990 | UTR 3 | NP_001034451.1 | |||
NM_144583.3 | 2990 | UTR 3 | NP_653184.2 | |||
XM_011510339.2 | 2990 | Intron | XP_011508641.1 | |||
XM_011510340.2 | 2990 | Intron | XP_011508642.1 | |||
XM_011510341.2 | 2990 | Intron | XP_011508643.1 | |||
XM_017003745.1 | 2990 | Intron | XP_016859234.1 |
PDIA6 - protein disulfide isomerase family A member 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282704.1 | 2990 | Missense Mutation | CCT,CTT | P,L 449 | NP_001269633.1 | |
NM_001282705.1 | 2990 | Missense Mutation | CCT,CTT | P,L 445 | NP_001269634.1 | |
NM_001282706.1 | 2990 | Missense Mutation | CCT,CTT | P,L 402 | NP_001269635.1 | |
NM_001282707.1 | 2990 | Missense Mutation | CCT,CTT | P,L 394 | NP_001269636.1 | |
NM_005742.3 | 2990 | Missense Mutation | CCT,CTT | P,L 397 | NP_005733.1 | |
XM_011510308.1 | 2990 | Intron | XP_011508610.1 |
Set Membership: |
HapMap |