Product Details

SNP ID
rs145333202
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134969989 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGTGAAGAGAGTCATAATGAGCC[A/G]TTTCTTTAAGATAATTATGATTAGC
Phenotype
MIM: 609120 MIM: 609836
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CATSPER3 PubMed Links

Gene Details

Gene
CATSPER3
Gene Name
cation channel sperm associated 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178019.2 235 Missense Mutation CAT,CGT H50R NP_821138.1
Gene
PCBD2
Gene Name
pterin-4 alpha-carbinolamine dehydratase 2
There are no transcripts associated with this gene.

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