Product Details

SNP ID
rs138196758
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:44806008 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCAGAATTGGACTCCCCCTCACT[C/T]GCAGTAGAGCCCGTGGACCGTGGCC
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_004073.3 804 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_001013632.3 804 Missense Mutation AAG,GAG K221E NP_001013654.1
XM_006710614.3 804 Missense Mutation AAG,GAG K279E XP_006710677.1
XM_011541375.2 804 Missense Mutation AAG,GAG K221E XP_011539677.1
XM_011541376.2 804 Missense Mutation AAG,GAG K221E XP_011539678.1
XM_017001187.1 804 Missense Mutation AAG,GAG K262E XP_016856676.1

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