Product Details

SNP ID

rs1760943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:20458540 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCCACCAGGGAGGGGCCAGGCAC[A/G]GTCTGTGGGTCATCAGGCTCAGGAG

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	1161	Intron			NP_001231178.1
NM_001641.3	1161	Intron			NP_001632.2
NM_080648.2	1161	Intron			NP_542379.1
NM_080649.2	1161	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	1161	UTR 3			NP_001094284.1
NM_144568.3	1161	UTR 3			NP_653169.2

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