Product Details

SNP ID: rs17885815
Assay Type: Functionally tested
NCBI dbSNP Submissions: 30
Location: Chr.1:44806156 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGCGCGGCCCCAGCACCACACTGCA[C/T]ACCAGCTTGTAGCGTGGCGGGCTGA
Phenotype: MIM: 602913 MIM: 611713
Polymorphism: C/T, 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	656	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	656	Silent Mutation	GTA,GTG	V171V	NP_001013654.1
XM_006710614.3	656	Silent Mutation	GTA,GTG	V229V	XP_006710677.1
XM_011541375.2	656	Silent Mutation	GTA,GTG	V171V	XP_011539677.1
XM_011541376.2	656	Silent Mutation	GTA,GTG	V171V	XP_011539678.1
XM_017001187.1	656	Silent Mutation	GTA,GTG	V212V	XP_016856676.1

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