Product Details

SNP ID
rs142293392
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:39463598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGAATATGCCACCGCCACAGCCA[C/T]GATCATGGTAGGGCCAGCCTCAACC
Phenotype
MIM: 607031 MIM: 603686
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LIAS PubMed Links

Gene Details

Gene
LIAS
Gene Name
lipoic acid synthetase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278590.1 480 Missense Mutation ACG,ATG T129M NP_001265519.1
NM_001278591.1 480 Missense Mutation ACG,ATG T129M NP_001265520.1
NM_001278592.1 480 Nonsense Mutation CGA,TGA R98* NP_001265521.1
NM_006859.3 480 Missense Mutation ACG,ATG T129M NP_006850.2
NM_194451.2 480 Missense Mutation ACG,ATG T129M NP_919433.1
XM_006713990.3 480 Nonsense Mutation CGA,TGA R98* XP_006714053.1
XM_017007665.1 480 Missense Mutation ACG,ATG T129M XP_016863154.1
XM_017007666.1 480 Nonsense Mutation CGA,TGA R98* XP_016863155.1
XM_017007667.1 480 Missense Mutation ACG,ATG T129M XP_016863156.1
Gene
RPL9
Gene Name
ribosomal protein L9
There are no transcripts associated with this gene.

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