Product Details

SNP ID

rs3795717

Assay Type

Functionally Tested

NCBI dbSNP Submissions

7

Location

Chr.1:44810703 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

CACACACTCTGGCCTGGAGAGGAAC[A/G]TGTGCCCACACAGAGAGAAGTATGT

Phenotype

MIM: 602913 MIM: 603673 MIM: 611713

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

BTBD19 PubMed Links

Additional Information

For this assay, SNP(s) [rs116724108] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1955	Intron			NP_001130009.1
XM_006710386.3	1955	Intron			XP_006710449.1
XM_011540803.2	1955	Missense Mutation	ATG,GTG	M193V	XP_011539105.1
XM_011540805.2	1955	Intron			XP_011539107.1
XM_017000447.1	1955	Missense Mutation	ATG,GTG	M193V	XP_016855936.1
XM_017000448.1	1955	Intron			XP_016855937.1
XM_017000449.1	1955	Missense Mutation	ATG,GTG	M193V	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	1955	Intron			NP_001013654.1

View Full Product Details