Product Details

SNP ID: rs202232774
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:20458571 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGGGTCATCAGGCTCAGGAGAAGTT[C/G]TGGACAGGGTGGCTGACCTTCATAC
Phenotype: MIM: 107748 MIM: 610107 MIM: 609865
Polymorphism: C/G, 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	1130	Intron			NP_001231178.1
NM_001641.3	1130	Intron			NP_001632.2
NM_080648.2	1130	Intron			NP_542379.1
NM_080649.2	1130	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100814.2	1130	Missense Mutation	CAC,CAG	H281Q	NP_001094284.1
NM_144568.3	1130	Missense Mutation	CAC,CAG	H274Q	NP_653169.2

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