Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCAGACTTCACAGAGGAAATCTGT[C/T]GCCGAGTAAAAGATTTAGATTAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614362 MIM: 601149 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ACSBG1 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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ACSBG1 - acyl-CoA synthetase bubblegum family member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199377.1 | 1120 | Intron | NP_001186306.1 | |||
NM_015162.4 | 1120 | Intron | NP_055977.3 | |||
XM_011521390.2 | 1120 | Intron | XP_011519692.1 | |||
XM_011521391.2 | 1120 | Intron | XP_011519693.2 | |||
XM_017022025.1 | 1120 | Intron | XP_016877514.1 | |||
XM_017022026.1 | 1120 | Intron | XP_016877515.1 |
IDH3A - isocitrate dehydrogenase 3 (NAD(+)) alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005530.2 | 1120 | Missense Mutation | CGC,TGC | R,C 360 | NP_005521.1 | |
XM_005254336.2 | 1120 | Missense Mutation | CGC,TGC | R,C 251 | XP_005254393.1 | |
XM_017022118.1 | 1120 | Missense Mutation | CGC,TGC | R,C 310 | XP_016877607.1 | |
XM_017022119.1 | 1120 | Missense Mutation | CGC,TGC | R,C 251 | XP_016877608.1 | |
XM_017022120.1 | 1120 | Missense Mutation | CGC,TGC | R,C 251 | XP_016877609.1 |