Product Details

SNP ID: rs146912347
Assay Type: Functionally tested
NCBI dbSNP Submissions: 14
Location: Chr.1:44806471 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGGACCCGCGCCTGGCCCGACCAG[C/T]GAGTTGCGGCGGGAGAAGGACGCGG
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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136537.1	341	Intron			NP_001130009.1
XM_006710386.3	341	Intron			XP_006710449.1
XM_011540803.2	341	Intron			XP_011539105.1
XM_011540805.2	341	Intron			XP_011539107.1
XM_017000447.1	341	Intron			XP_016855936.1
XM_017000448.1	341	Intron			XP_016855937.1
XM_017000449.1	341	Intron			XP_016855938.1

Gene: PLK3
Gene Name: polo like kinase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004073.3	341	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	341	Silent Mutation	TCA,TCG	S66S	NP_001013654.1
XM_006710614.3	341	Silent Mutation	TCA,TCG	S124S	XP_006710677.1
XM_011541375.2	341	Silent Mutation	TCA,TCG	S66S	XP_011539677.1
XM_011541376.2	341	Silent Mutation	TCA,TCG	S66S	XP_011539678.1
XM_017001187.1	341	Silent Mutation	TCA,TCG	S107S	XP_016856676.1

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