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CCACCGCACAGCTGAGCTGGCCCGA[A/G]CTGAAGAGTTGTTGGAGCAGCAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142560 MIM: 609624 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP6V1G2-DDX39B 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-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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004640.6 | 261 | Intron | NP_004631.1 | |||
NM_080598.5 | 261 | Intron | NP_542165.1 |
MCCD1 - mitochondrial coiled-coil domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011700.2 | 261 | Missense Mutation | ACT,GCT | T,A 70 | NP_001011700.2 |
SNORD117 - small nucleolar RNA, C/D box 117 | ||||||
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There are no transcripts associated with this gene. |