Product Details

SNP ID
rs142159452
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:200490242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGGTGGCGCACAGCGGAGTCCTC[C/T]TCAGCTTTATCACCCGCTGGGGTGT
Phenotype
MIM: 613817
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KCTD18 PubMed Links

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 1681 Missense Mutation AAG,AGG K380R NP_001308476.1
NM_001321548.1 1681 Missense Mutation AAG,AGG K171R NP_001308477.1
NM_001321550.1 1681 Missense Mutation AAG,AGG K171R NP_001308479.1
NM_152387.3 1681 Missense Mutation AAG,AGG K380R NP_689600.2
Gene
SPATS2L
Gene Name
spermatogenesis associated serine rich 2 like
There are no transcripts associated with this gene.

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