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GGGGCAAGGCTGGTGGGCTGGGATG[A/C]TGCCTTCCGCCGGCTGGGGCTGCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606048 | ||||||||||||||||||||||||||||||||||||||
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146056.2 | 1714 | Missense Mutation | GCA,TCA | A,S 385 | NP_001139528.1 | |
NM_001146082.2 | 1714 | Intron | NP_001139554.1 | |||
NM_001146083.2 | 1714 | Missense Mutation | GCA,TCA | A,S 385 | NP_001139555.1 | |
NM_024298.4 | 1714 | Missense Mutation | GCA,TCA | A,S 458 | NP_077274.3 | |
XM_011527299.2 | 1714 | Missense Mutation | GCA,TCA | A,S 458 | XP_011525601.1 | |
XM_011527300.2 | 1714 | Missense Mutation | GCA,TCA | A,S 458 | XP_011525602.1 | |
XM_017027296.1 | 1714 | Intron | XP_016882785.1 |
TMC4 - transmembrane channel like 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145303.2 | 1714 | Intron | NP_001138775.2 | |||
NM_144686.3 | 1714 | Intron | NP_653287.2 | |||
XM_011526486.2 | 1714 | Intron | XP_011524788.1 |