Product Details

SNP ID
rs140376045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:48115686 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGGGTCAGAGCCTGAGTCCTCG[C/T]CTTGTTGGTTCTGAATCTGACTTTG
Phenotype
MIM: 126391 MIM: 603602
Polymorphism
C/T, Transition 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 2672 Missense Mutation GAC,GGC D908G NP_000225.1
NM_001289063.1 2672 Missense Mutation GAC,GGC D877G NP_001275992.1
NM_001289064.1 2672 Missense Mutation GAC,GGC D840G NP_001275993.1
NM_001320970.1 2672 Missense Mutation GAC,GGC D907G NP_001307899.1
NM_001320971.1 2672 Missense Mutation GAC,GGC D878G NP_001307900.1
XM_017026809.1 2672 Missense Mutation GAC,GGC D872G XP_016882298.1
Gene
PLA2G4C
Gene Name
phospholipase A2 group IVC
There are no transcripts associated with this gene.

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