Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCTTCCTCCTTGGCTTGCTTCAAT[C/T]GCTTTCCTTTTCCTGAAAATTAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
15 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
|||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP6V1G3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
ATP6V1G3 - ATPase H+ transporting V1 subunit G3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320218.1 | 231 | Missense Mutation | CAA,CGA | Q,R 38 | NP_001307147.1 | |
NM_133262.2 | 231 | Missense Mutation | CAA,CGA | Q,R 32 | NP_573569.1 | |
NM_133326.1 | 231 | Silent Mutation | GCA,GCG | A,A 47 | NP_579872.1 | |
XM_006711163.3 | 231 | Missense Mutation | CAA,CGA | Q,R 32 | XP_006711226.1 | |
XM_011509186.2 | 231 | Missense Mutation | CAA,CGA | Q,R 38 | XP_011507488.1 | |
XM_011509187.2 | 231 | Silent Mutation | GCA,GCG | A,A 47 | XP_011507489.1 |