Product Details

SNP ID

rs200455244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:20460266 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGACAGTTACAGGGGCATCGAAC[A/G]TATTTTTTCCCTGGGGGTGCATTCT

Phenotype

MIM: 107748 MIM: 610107 MIM: 164050 MIM: 609865

Polymorphism

A/G, 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

PNP

Gene Name

purine nucleoside phosphorylase

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	674	Silent Mutation	TAC,TAT	Y129Y	NP_001094284.1
NM_144568.3	674	Silent Mutation	TAC,TAT	Y122Y	NP_653169.2

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