Product Details

SNP ID

rs139465833

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:32879174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCCCGCAGATTCTAGCAGGTGGG[A/G]GCATGAGACTTCAGGTCATAGGAGC

Phenotype

MIM: 615470 MIM: 604144

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CEP89 PubMed Links

Additional Information

For this assay, SNP(s) [rs745960] are located under a probe and SNP(s) [rs745961] 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032816.4	2495	Silent Mutation	GCC,GCT	A780A	NP_116205.3
XM_005259344.3	2495	Silent Mutation	GCC,GCT	A756A	XP_005259401.1
XM_011527425.2	2495	Silent Mutation	GCC,GCT	A533A	XP_011525727.1
XM_017027398.1	2495	Intron			XP_016882887.1

Gene

SLC7A9

Gene Name

solute carrier family 7 member 9

There are no transcripts associated with this gene.

View Full Product Details