Search Thermo Fisher Scientific
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TCCTGGAGGCTGGGCTGTGATCCGC[C/G]GCTGCTGCGTTATCTTGTGGGCTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612491 MIM: 608769 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
APIP 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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APIP - APAF1 interacting protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015957.3 | 561 | Intron | NP_057041.2 | |||
XM_011520154.2 | 561 | Intron | XP_011518456.1 | |||
XM_017017875.1 | 561 | Intron | XP_016873364.1 |
PDHX - pyruvate dehydrogenase complex component X | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135024.1 | 561 | Intron | NP_001128496.1 | |||
NM_001166158.1 | 561 | Missense Mutation | CCG,CGG | P,R 12 | NP_001159630.1 | |
NM_003477.2 | 561 | Missense Mutation | CCG,CGG | P,R 12 | NP_003468.2 | |
XM_011520390.1 | 561 | Intron | XP_011518692.1 |