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ATGAGCTGGGCTACTTCATTTGTTG[C/T]GTGGCATGCAAACAGAAGCCAGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614738 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MPC1 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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MPC1 - mitochondrial pyruvate carrier 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270879.1 | 1173 | Missense Mutation | ACA,GCA | T,A 42 | NP_001257808.1 | |
NM_016098.3 | 1173 | Missense Mutation | ACA,GCA | T,A 85 | NP_057182.1 | |
XM_011535894.1 | 1173 | Missense Mutation | ACA,GCA | T,A 42 | XP_011534196.1 | |
XM_011535895.1 | 1173 | Missense Mutation | ACA,GCA | T,A 42 | XP_011534197.1 |