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ACTTGAAGAATCATTAAAAAAATAC[C/T]TTGAATCAGGTATGTTAATAATCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606090 MIM: 616403 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CROT 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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CROT - carnitine O-octanoyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001143935.1 | 289 | Missense Mutation | CTT,TTT | L,F 36 | NP_001137407.1 | |
NM_001243745.1 | 289 | Missense Mutation | CTT,TTT | L,F 36 | NP_001230674.1 | |
NM_021151.3 | 289 | Missense Mutation | CTT,TTT | L,F 36 | NP_066974.2 | |
XM_011516337.2 | 289 | Missense Mutation | CTT,TTT | L,F 36 | XP_011514639.1 | |
XM_017012370.1 | 289 | UTR 5 | XP_016867859.1 |
TP53TG1 - TP53 target 1 (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |