Product Details

SNP ID

rs112886802

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:32976508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCTGCTGCTGTCTGAGCCTTC[C/G]CTCCTTCGAACCGTGCAGCAGATCC

Phenotype

MIM: 615470 MIM: 610884

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CEP89 PubMed Links

Additional Information

For this assay, SNP(s) [rs2304103] are located under a probe and SNP(s) [rs2304102] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CEP89

Gene Name

centrosomal protein 89

There are no transcripts associated with this gene.

Gene

FAAP24

Gene Name

Fanconi anemia core complex associated protein 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300978.1		Intron			NP_001287907.1
NM_152266.4		Intron			NP_689479.1
XM_005259393.3		Intron			XP_005259450.1

Gene

RHPN2

Gene Name

rhophilin Rho GTPase binding protein 2

There are no transcripts associated with this gene.

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