Product Details

SNP ID

rs146726398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:20447956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGAGCCACAATGTGCCATGGC[C/T]CGCTCTGTGATCTCTACCAGCATTG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017807.3	1166	Silent Mutation	CGA,CGG	R247R	NP_060277.1

Gene

TMEM55B

Gene Name

transmembrane protein 55B

There are no transcripts associated with this gene.

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