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CAGAGCGCCTTGGCAGCTGAGGCCC[A/G]GGAGACCCGTCGTCAGGAGCTCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606048 MIM: 603631 MIM: 608754 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MBOAT7 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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MBOAT7 - membrane bound O-acyltransferase domain containing 7 | ||||||
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There are no transcripts associated with this gene. |
RPS9 - ribosomal protein S9 | ||||||
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There are no transcripts associated with this gene. |
TSEN34 - tRNA splicing endonuclease subunit 34 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001077446.3 | 417 | Missense Mutation | CAG,CGG | Q,R 105 | NP_001070914.1 | |
NM_001282332.1 | 417 | Missense Mutation | CAG,CGG | Q,R 105 | NP_001269261.1 | |
NM_001282333.1 | 417 | Missense Mutation | CAG,CGG | Q,R 108 | NP_001269262.1 | |
NM_024075.4 | 417 | Missense Mutation | CAG,CGG | Q,R 105 | NP_076980.2 | |
XM_005278290.4 | 417 | Missense Mutation | CAG,CGG | Q,R 108 | XP_005278347.1 | |
XM_011527294.2 | 417 | Missense Mutation | CAG,CGG | Q,R 105 | XP_011525596.1 | |
XM_011527295.1 | 417 | Missense Mutation | CAG,CGG | Q,R 105 | XP_011525597.1 |