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GAACGTCGCTTTCGTCGTTACTTGT[A/C]TGCAGGACGGCTGGTCCGGGCCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606853 MIM: 142560 MIM: 601022 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP6V1G2 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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ATP6V1G2 - ATPase H+ transporting V1 subunit G2 | ||||||
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There are no transcripts associated with this gene. |
ATP6V1G2-DDX39B - ATP6V1G2-DDX39B readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
DDX39B - DEAD-box helicase 39B | ||||||
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There are no transcripts associated with this gene. |
DDX39B-AS1 - DDX39B antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
LOC100287329 - uncharacterized LOC100287329 | ||||||
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There are no transcripts associated with this gene. |
NFKBIL1 - NFKB inhibitor like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144961.1 | 244 | Missense Mutation | TAT,TCT | Y,S 42 | NP_001138433.1 | |
NM_001144962.1 | 244 | Missense Mutation | TAT,TCT | Y,S 19 | NP_001138434.1 | |
NM_001144963.1 | 244 | Missense Mutation | TAT,TCT | Y,S 19 | NP_001138435.1 | |
NM_005007.3 | 244 | Missense Mutation | TAT,TCT | Y,S 42 | NP_004998.3 |
SNORD84 - small nucleolar RNA, C/D box 84 | ||||||
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There are no transcripts associated with this gene. |