Product Details

SNP ID

rs114402161

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:12993710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTAGGTGGGAATCCTCTGGCCT[C/T]ATTTGTGCTATGTGGACTGGAAACG

Phenotype

MIM: 616426 MIM: 609263

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CEP192 PubMed Links

Additional Information

For this assay, SNP(s) [rs201371427] 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

CEP192

Gene Name

centrosomal protein 192

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032142.3		Intron			NP_115518.3
XM_005258107.3		Intron			XP_005258164.1
XM_005258109.3		Intron			XP_005258166.1
XM_005258110.1		Intron			XP_005258167.1
XM_006722326.3		Intron			XP_006722389.1
XM_006722327.3		Intron			XP_006722390.1
XM_006722330.3		Intron			XP_006722393.1
XM_011525673.2		Intron			XP_011523975.1
XM_011525675.2		Intron			XP_011523977.1
XM_017025803.1		Intron			XP_016881292.1
XM_017025804.1		Intron			XP_016881293.1
XM_017025805.1		Intron			XP_016881294.1
XM_017025806.1		Intron			XP_016881295.1
XM_017025807.1		Intron			XP_016881296.1

Gene

SEH1L

Gene Name

SEH1 like nucleoporin

There are no transcripts associated with this gene.

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