Product Details

SNP ID
rs148760734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:66017118 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCCTGGGAGCGGAACTTCTGC[C/T]GCTCCTGCTCCACGCTTGCCACCAG
Phenotype
MIM: 606389 MIM: 601891
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CATSPER1 PubMed Links

Gene Details

Gene
CATSPER1
Gene Name
cation channel sperm associated 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_053054.3 2396 Missense Mutation CCG,CTG P753L NP_444282.3
Gene
CST6
Gene Name
cystatin E/M
There are no transcripts associated with this gene.

View Full Product Details