Product Details

SNP ID

rs200805743

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:44810248 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGTGGTTGGTCAAGAACGGCAGG[A/C]GGTATTTGCCCATCGGTGCTTGTTG

Phenotype

MIM: 602913 MIM: 603673 MIM: 611713

Polymorphism

A/C, Transversion 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	461	Missense Mutation	GAG,GCG	E41A	NP_001130009.1
XM_006710386.3	461	Missense Mutation	GAG,GCG	E41A	XP_006710449.1
XM_011540803.2	461	Missense Mutation	GAG,GCG	E41A	XP_011539105.1
XM_011540805.2	461	Missense Mutation	GAG,GCG	E41A	XP_011539107.1
XM_017000447.1	461	Missense Mutation	GAG,GCG	E41A	XP_016855936.1
XM_017000448.1	461	Missense Mutation	GAG,GCG	E41A	XP_016855937.1
XM_017000449.1	461	Missense Mutation	GAG,GCG	E41A	XP_016855938.1

Gene

PLK3

Gene Name

polo like kinase 3

There are no transcripts associated with this gene.

Gene

PTCH2

Gene Name

patched 2

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	461	Intron			NP_001013654.1

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