Product Details

SNP ID

rs200630198

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74023033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATTAAGTATCGTGATACTTCACG[G/T]ATACTGGCAAAAAGTAATGAGGACT

Phenotype

MIM: 603162

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

BBOF1 PubMed Links

Additional Information

For this assay, SNP(s) [rs3784039] are located under a probe 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

BBOF1

Gene Name

basal body orientation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025057.2	303	Silent Mutation	CGG,CGT	R58R	NP_079333.2
XM_005268092.3	303	Silent Mutation	CGG,CGT	R58R	XP_005268149.1
XM_005268097.3	303	Silent Mutation	CGG,CGT	R58R	XP_005268154.1
XM_005268098.4	303	Intron			XP_005268155.1
XM_011537170.2	303	Silent Mutation	CGG,CGT	R58R	XP_011535472.1
XM_011537171.2	303	Silent Mutation	CGG,CGT	R58R	XP_011535473.1
XM_011537172.1	303	Silent Mutation	CGG,CGT	R58R	XP_011535474.1
XM_011537174.2	303	Silent Mutation	CGG,CGT	R58R	XP_011535476.1
XM_011537175.2	303	Silent Mutation	CGG,CGT	R58R	XP_011535477.1
XM_011537176.2	303	UTR 5			XP_011535478.1
XM_011537177.2	303	Intron			XP_011535479.1
XM_011537178.2	303	Intron			XP_011535480.1
XM_011537179.2	303	Intron			XP_011535481.1
XM_017021659.1	303	Silent Mutation	CGG,CGT	R58R	XP_016877148.1
XM_017021660.1	303	Intron			XP_016877149.1
XM_017021661.1	303	Intron			XP_016877150.1
XM_017021662.1	303	Intron			XP_016877151.1
XM_017021663.1	303	Silent Mutation	CGG,CGT	R58R	XP_016877152.1

Gene

ENTPD5

Gene Name

ectonucleoside triphosphate diphosphohydrolase 5

There are no transcripts associated with this gene.

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