Product Details

SNP ID

rs3795969

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:200490212 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCGTGGCCGTGGGGGAGGGCAGG[C/G]AAGGCGCGGTGGCGCACAGCGGAGT

Phenotype

MIM: 613817

Polymorphism

C/G, Transversion 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	1711	Missense Mutation	TCC,TGC	S390C	NP_001308476.1
NM_001321548.1	1711	Missense Mutation	TCC,TGC	S181C	NP_001308477.1
NM_001321550.1	1711	Missense Mutation	TCC,TGC	S181C	NP_001308479.1
NM_152387.3	1711	Missense Mutation	TCC,TGC	S390C	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