Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAACGATGGTAGGGAAAGCCCCGC[C/G]TCCTACAGGTGCCGTGGAGCCACGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 611099 | ||||||||||||||||||||
Literature Links: |
ATP6V1C2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
ATP6V1C2 - ATPase H+ transporting V1 subunit C2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039362.1 | 2982 | UTR 3 | NP_001034451.1 | |||
NM_144583.3 | 2982 | UTR 3 | NP_653184.2 | |||
XM_011510339.2 | 2982 | Intron | XP_011508641.1 | |||
XM_011510340.2 | 2982 | Intron | XP_011508642.1 | |||
XM_011510341.2 | 2982 | Intron | XP_011508643.1 | |||
XM_017003745.1 | 2982 | Intron | XP_016859234.1 |
PDIA6 - protein disulfide isomerase family A member 6 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282704.1 | 2982 | Missense Mutation | CGC,GGC | R,G 452 | NP_001269633.1 | |
NM_001282705.1 | 2982 | Missense Mutation | CGC,GGC | R,G 448 | NP_001269634.1 | |
NM_001282706.1 | 2982 | Missense Mutation | CGC,GGC | R,G 405 | NP_001269635.1 | |
NM_001282707.1 | 2982 | Missense Mutation | CGC,GGC | R,G 397 | NP_001269636.1 | |
NM_005742.3 | 2982 | Missense Mutation | CGC,GGC | R,G 400 | NP_005733.1 | |
XM_011510308.1 | 2982 | Intron | XP_011508610.1 |