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TTTCCCGGGGAGACCTTTCCAGTGT[C/T]GGTAGAGTGTGAGGATGGAGACCGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602292 MIM: 615853 | ||||||||||||||||||||
Literature Links: |
ECHS1 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 |
ECHS1 - enoyl-CoA hydratase, short chain 1 | ||||||
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There are no transcripts associated with this gene. |
MIR3944 - microRNA 3944 | ||||||
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There are no transcripts associated with this gene. |
PAOX - polyamine oxidase (exo-N4-amino) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152911.3 | 886 | Missense Mutation | TCG,TTG | S,L 269 | NP_690875.1 | |
NM_207127.2 | 886 | Missense Mutation | TCG,TTG | S,L 269 | NP_997010.1 | |
NM_207128.2 | 886 | Missense Mutation | TCG,TTG | S,L 269 | NP_997011.1 |