Product Details

SNP ID

rs199722039

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200490386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGCCCCCGTGCCCACCAGGGCC[A/G]TGGCTCTGGAAGGTGCAGAGCGCTG

Phenotype

MIM: 613817

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

KCTD18 PubMed Links

Additional Information

For this assay, SNP(s) [rs13018579] 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

KCTD18

Gene Name

potassium channel tetramerization domain containing 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321547.1	1537	Missense Mutation	ACG,ATG	T332M	NP_001308476.1
NM_001321548.1	1537	Missense Mutation	ACG,ATG	T123M	NP_001308477.1
NM_001321550.1	1537	Missense Mutation	ACG,ATG	T123M	NP_001308479.1
NM_152387.3	1537	Missense Mutation	ACG,ATG	T332M	NP_689600.2

Gene

SPATS2L

Gene Name

spermatogenesis associated serine rich 2 like

There are no transcripts associated with this gene.

View Full Product Details