Product Details

SNP ID

rs144208698

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:44806028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTCGCAGTAGAGCCCGTGGACC[A/G]TGGCCACCGCGAAGAGCGAGGTGTT

Phenotype

MIM: 602913 MIM: 611713

Polymorphism

A/G, Transition 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	784	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	784	Missense Mutation	ACG,ATG	T214M	NP_001013654.1
XM_006710614.3	784	Missense Mutation	ACG,ATG	T272M	XP_006710677.1
XM_011541375.2	784	Missense Mutation	ACG,ATG	T214M	XP_011539677.1
XM_011541376.2	784	Missense Mutation	ACG,ATG	T214M	XP_011539678.1
XM_017001187.1	784	Missense Mutation	ACG,ATG	T255M	XP_016856676.1

View Full Product Details