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TCTGGAAGACTGAATCACAATTTAC[C/T]GCTAGGGGAGCCTGCCAAGCTTTGC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607037 | |||||||||||||||||||||||
Literature Links: |
EHHADH PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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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 |
EHHADH - enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166415.1 | 2219 | Missense Mutation | AGT,GGT | S,G 625 | NP_001159887.1 | |
NM_001966.3 | 2219 | Missense Mutation | AGT,GGT | S,G 721 | NP_001957.2 | |
XM_006713525.1 | 2219 | Missense Mutation | AGT,GGT | S,G 513 | XP_006713588.1 | |
XM_011512517.1 | 2219 | Missense Mutation | AGT,GGT | S,G 625 | XP_011510819.1 | |
XM_017005839.1 | 2219 | Missense Mutation | AGT,GGT | S,G 513 | XP_016861328.1 |
EHHADH-AS1 - EHHADH antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |