Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTTCCCGGAGGAGTACGTGCCCAC[C/G]GTCTTCGACCACTACGCAGGTAAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605857 | ||||||||||||||||||||
Literature Links: |
ATP6V1E2 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 |
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 | 761 | Intron | NP_001304992.1 | |||
XM_005264633.2 | 761 | Intron | XP_005264690.1 | |||
XM_005264634.2 | 761 | Intron | XP_005264691.1 | |||
XM_011533148.2 | 761 | Intron | XP_011531450.1 | |||
XM_011533149.2 | 761 | Intron | XP_011531451.1 | |||
XM_011533150.2 | 761 | Intron | XP_011531452.1 | |||
XM_011533151.2 | 761 | Intron | XP_011531453.1 | |||
XM_011533152.2 | 761 | Intron | XP_011531454.1 | |||
XM_011533153.2 | 761 | Intron | XP_011531455.1 | |||
XM_017005225.1 | 761 | Intron | XP_016860714.1 | |||
XM_017005226.1 | 761 | Intron | XP_016860715.1 |
RHOQ - ras homolog family member Q | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012249.3 | 761 | Silent Mutation | ACC,ACG | T,T 41 | NP_036381.2 | |
XM_005264229.2 | 761 | Silent Mutation | ACC,ACG | T,T 41 | XP_005264286.1 | |
XM_011532726.2 | 761 | Silent Mutation | ACC,ACG | T,T 41 | XP_011531028.1 | |
XM_011532728.2 | 761 | Missense Mutation | CCG,CGG | P,R 13 | XP_011531030.1 | |
XM_017003716.1 | 761 | Silent Mutation | ACC,ACG | T,T 41 | XP_016859205.1 |