Product Details

SNP ID

rs199603970

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:44806112 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGTCCCAGAGCGCACGGCTGACC[A/G]CGTGAACGCCCTGGCCCGCGCGCGG

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	700	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	700	Missense Mutation	GCG,GTG	A186V	NP_001013654.1
XM_006710614.3	700	Missense Mutation	GCG,GTG	A244V	XP_006710677.1
XM_011541375.2	700	Missense Mutation	GCG,GTG	A186V	XP_011539677.1
XM_011541376.2	700	Missense Mutation	GCG,GTG	A186V	XP_011539678.1
XM_017001187.1	700	Missense Mutation	GCG,GTG	A227V	XP_016856676.1

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