Product Details

SNP ID
rs3136818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:20456290 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTCCTTCACTTCCATTGCCATTTTC[A/T]TTTTTAGTGTTCTCTCCTCTTCCCA
Phenotype
MIM: 107748 MIM: 610107 MIM: 609865
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
APEX1 PubMed Links

Gene Details

Gene
APEX1
Gene Name
apurinic/apyrimidinic endodeoxyribonuclease 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001244249.1 Intron NP_001231178.1
NM_001641.3 Intron NP_001632.2
NM_080648.2 Intron NP_542379.1
NM_080649.2 Intron NP_542380.1
Gene
OSGEP
Gene Name
O-sialoglycoprotein endopeptidase
There are no transcripts associated with this gene.

Gene
TMEM55B
Gene Name
transmembrane protein 55B
There are no transcripts associated with this gene.

View Full Product Details