Product Details

SNP ID

rs201549322

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:44808842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCATGGAGCCCTTGGGACTGGTC[A/G]TGCATGGGAAAGCTGAACCTTTTTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136537.1	361	Missense Mutation	ATG,GTG	M8V	NP_001130009.1
XM_006710386.3	361	Missense Mutation	ATG,GTG	M8V	XP_006710449.1
XM_011540803.2	361	Missense Mutation	ATG,GTG	M8V	XP_011539105.1
XM_011540805.2	361	Missense Mutation	ATG,GTG	M8V	XP_011539107.1
XM_017000447.1	361	Missense Mutation	ATG,GTG	M8V	XP_016855936.1
XM_017000448.1	361	Missense Mutation	ATG,GTG	M8V	XP_016855937.1
XM_017000449.1	361	Missense Mutation	ATG,GTG	M8V	XP_016855938.1

Gene

PLK3

Gene Name

polo like kinase 3

There are no transcripts associated with this gene.

Gene

TCTEX1D4

Gene Name

Tctex1 domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013632.3	361	Intron			NP_001013654.1

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