Product Details

SNP ID

rs17886308

Assay Type

Functionally Tested

NCBI dbSNP Submissions

9

Location

Chr.1:44806242 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCGCACCAGCCGCGCGGCCTCGT[A/C]GCTGGAGTAGCACGCGTCGTGCAGC

Phenotype

MIM: 602913 MIM: 611713

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

Additional Information

For this assay, SNP(s) [rs17886118] are located under a probe and SNP(s) [rs17885815] 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

BTBD19

Gene Name

BTB domain containing 19

There are no transcripts associated with this gene.

Gene

PLK3

Gene Name

polo like kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004073.3	570	Intron			NP_004064.2

Gene

TCTEX1D4

Gene Name

Tctex1 domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013632.3	570	Missense Mutation	GAC,TAC	D143Y	NP_001013654.1
XM_006710614.3	570	Missense Mutation	GAC,TAC	D201Y	XP_006710677.1
XM_011541375.2	570	Missense Mutation	GAC,TAC	D143Y	XP_011539677.1
XM_011541376.2	570	Missense Mutation	GAC,TAC	D143Y	XP_011539678.1
XM_017001187.1	570	Missense Mutation	GAC,TAC	D184Y	XP_016856676.1

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