Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCAGGCAGTTCATGCGTTCCGTGT[C/T]CTCCTCGTCCACCGCCTCGGCCTCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601609 | ||||||||||||||||||||
Literature Links: |
HADH 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 |
HADH - hydroxyacyl-CoA dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001184705.2 | 257 | Missense Mutation | TCC,TTC | S,F 13 | NP_001171634.2 | |
NM_005327.4 | 257 | Missense Mutation | TCC,TTC | S,F 13 | NP_005318.3 | |
XM_005262972.2 | 257 | Intron | XP_005263029.1 |