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Search Thermo Fisher Scientific
AGGAGGAGGTCTTGTGGCCGGCAGC[A/G]TACAATCATCACAGGTTCCAGCAGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ATP6V1E2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ATP6V1E2 - ATPase H+ transporting V1 subunit E2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318063.1 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | NP_001304992.1 | |
XM_005264633.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_005264690.1 | |
XM_005264634.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_005264691.1 | |
XM_011533148.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531450.1 | |
XM_011533149.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531451.1 | |
XM_011533150.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531452.1 | |
XM_011533151.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531453.1 | |
XM_011533152.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531454.1 | |
XM_011533153.2 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_011531455.1 | |
XM_017005225.1 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_016860714.1 | |
XM_017005226.1 | 1848 | Missense Mutation | CGC,TGC | R,C 135 | XP_016860715.1 |