Product Details

SNP ID

rs139264127

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134970033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTAGCACTGTCACATCGAATGCG[C/T]TTTTTATGGCCTTGTGGACCAGTTA

Phenotype

MIM: 609120 MIM: 609836

Polymorphism

C/T, 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	279	Missense Mutation	CTT,TTT	L65F	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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