Product Details

SNP ID
rs143203150
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:20459241 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGCAGTGACTGCCAAAAGCAAGC[C/T]AAGCAAGAAGCAGCAGATACATCTC
Phenotype
MIM: 107748 MIM: 610107 MIM: 609865
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
APEX1 PubMed Links

Gene Details

Gene
APEX1
Gene Name
apurinic/apyrimidinic endodeoxyribonuclease 1
There are no transcripts associated with this gene.

Gene
OSGEP
Gene Name
O-sialoglycoprotein endopeptidase
There are no transcripts associated with this gene.

Gene
TMEM55B
Gene Name
transmembrane protein 55B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100814.2 963 Missense Mutation AGC,GGC S226G NP_001094284.1
NM_144568.3 963 Missense Mutation AGC,GGC S219G NP_653169.2

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