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ATTACTTTTTGGAATTAGAACTGAG[A/G]CCAAACAAAGTGATGATGTCAGTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600528 MIM: 604374 | ||||||||||||||||||||
Literature Links: |
CPT1A PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CPT1A - carnitine palmitoyltransferase 1A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001031847.2 | 2468 | Intron | NP_001027017.1 | |||
NM_001876.3 | 2468 | Silent Mutation | GGC,GGT | G,G 766 | NP_001867.2 | |
XM_005273762.2 | 2468 | Silent Mutation | GGC,GGT | G,G 798 | XP_005273819.1 | |
XM_005273763.1 | 2468 | Intron | XP_005273820.1 | |||
XM_017017220.1 | 2468 | Silent Mutation | GGC,GGT | G,G 766 | XP_016872709.1 |
TESMIN - testis expressed metallothionein like protein | ||||||
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There are no transcripts associated with this gene. |