Product Details

SNP ID
rs145821638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48117686 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGAGAGGGAGAGGTCAGCGCA[A/C]TTCACCTCCCACACAGCGCTGGGGT
Phenotype
MIM: 126391 MIM: 603602
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
LIG1 PubMed Links

Gene Details

Gene
LIG1
Gene Name
DNA ligase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000234.2 2484 Missense Mutation AAG,AAT K845N NP_000225.1
NM_001289063.1 2484 Missense Mutation AAG,AAT K814N NP_001275992.1
NM_001289064.1 2484 Missense Mutation AAG,AAT K777N NP_001275993.1
NM_001320970.1 2484 Missense Mutation AAG,AAT K844N NP_001307899.1
NM_001320971.1 2484 Missense Mutation AAG,AAT K815N NP_001307900.1
XM_017026809.1 2484 Missense Mutation AAG,AAT K809N XP_016882298.1
Gene
PLA2G4C
Gene Name
phospholipase A2 group IVC
There are no transcripts associated with this gene.

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