Product Details

SNP ID

rs201577547

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:74357603 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCCACCGCCGGGCCCGCGCCT[C/T]CCGCCAGGTGCGCGCGCATGTAGTC

Phenotype

MIM: 609046

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

BTBD17 PubMed Links

Additional Information

For this assay, SNP(s) [rs11547807] are located under a probe 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

BTBD17

Gene Name

BTB domain containing 17

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080466.1	1333	Missense Mutation	GAA,GGA	E164G	NP_001073935.1
XM_011524791.2	1333	Missense Mutation	GAA,GGA	E165G	XP_011523093.1
XM_017024622.1	1333	Missense Mutation	GAA,GGA	E165G	XP_016880111.1

Gene

GPR142

Gene Name

G protein-coupled receptor 142

There are no transcripts associated with this gene.

Gene

KIF19

Gene Name

kinesin family member 19

There are no transcripts associated with this gene.

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