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SNP ID: rs201190560
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:20456857 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTGCCCACTCAAAGTTTCTTACGGC[A/G]TAGGTGAGACCCTATTGATGCCTAA
Phenotype: MIM: 107748 MIM: 610107 MIM: 609865
Polymorphism: A/G, Transition 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	702	Missense Mutation	ATA,GTA	I146V	NP_001231178.1
NM_001641.3	702	Missense Mutation	ATA,GTA	I146V	NP_001632.2
NM_080648.2	702	Missense Mutation	ATA,GTA	I146V	NP_542379.1
NM_080649.2	702	Missense Mutation	ATA,GTA	I146V	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100814.2	702	Intron			NP_001094284.1
NM_144568.3	702	Intron			NP_653169.2

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