Product Details

SNP ID

rs17884489

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:44806281 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCGTGCAGCCCTGCGGCCAGCG[A/C]CGCCTCCAGGGCACGCTGTGCACGC

Phenotype

MIM: 602913 MIM: 611713

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

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	531	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	531	Missense Mutation	GCG,TCG	A130S	NP_001013654.1
XM_006710614.3	531	Missense Mutation	GCG,TCG	A188S	XP_006710677.1
XM_011541375.2	531	Missense Mutation	GCG,TCG	A130S	XP_011539677.1
XM_011541376.2	531	Missense Mutation	GCG,TCG	A130S	XP_011539678.1
XM_017001187.1	531	Missense Mutation	GCG,TCG	A171S	XP_016856676.1

View Full Product Details