Product Details

SNP ID
rs75831568
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:15563507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCAAATGCAGTCATGACTTGCT[C/T]ATAATGTGAATTTGGCAGCAAACAC
Phenotype
MIM: 604300
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
HACL1 PubMed Links

Gene Details

Gene
HACL1
Gene Name
2-hydroxyacyl-CoA lyase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284413.1 1944 Missense Mutation AAG,GAG K492E NP_001271342.1
NM_001284415.1 1944 Missense Mutation AAG,GAG K459E NP_001271344.1
NM_001284416.1 1944 Missense Mutation AAG,GAG K437E NP_001271345.1
NM_012260.3 1944 Missense Mutation AAG,GAG K519E NP_036392.2

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