Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAACTGTATTTACCTGGGCCTTCC[A/G]TGTGGCTTGTGGCTCAATCATGATG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604300 | ||||||||||||||||||||
Literature Links: |
HACL1 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 |
HACL1 - 2-hydroxyacyl-CoA lyase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284413.1 | 2082 | Missense Mutation | CGG,TGG | R,W 538 | NP_001271342.1 | |
NM_001284415.1 | 2082 | Missense Mutation | CGG,TGG | R,W 505 | NP_001271344.1 | |
NM_001284416.1 | 2082 | Missense Mutation | CGG,TGG | R,W 483 | NP_001271345.1 | |
NM_012260.3 | 2082 | Missense Mutation | CGG,TGG | R,W 565 | NP_036392.2 |