Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGAGGTGGAAGTGCATGGCGATGG[C/T]GTAGGAGGTGTCCATGAAGATGTCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600184 MIM: 614516 | ||||||||||||||||||||
Literature Links: |
CRAT 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 |
CRAT - carnitine O-acetyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000755.3 | 2011 | Missense Mutation | ACC,GCC | T,A 544 | NP_000746.2 | |
NM_001257363.1 | 2011 | Missense Mutation | ACC,GCC | T,A 523 | NP_001244292.1 | |
XM_005251708.3 | 2011 | Missense Mutation | ACC,GCC | T,A 523 | XP_005251765.1 | |
XM_017014274.1 | 2011 | Missense Mutation | ACC,GCC | T,A 545 | XP_016869763.1 | |
XM_017014275.1 | 2011 | Missense Mutation | ACC,GCC | T,A 545 | XP_016869764.1 |
DOLPP1 - dolichyldiphosphatase 1 | ||||||
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There are no transcripts associated with this gene. |