Product Details

SNP ID
rs149429390
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43635752 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTGGATGATCTGCCGCTTGAACA[C/T]GTCAGCTTTGAGCTGAACCTCCCGA
Phenotype
MIM: 607249
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CATSPER2 PubMed Links

Gene Details

Gene
CATSPER2
Gene Name
cation channel sperm associated 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282309.1 1311 Missense Mutation NP_001269238.1
NM_001282310.1 1311 Missense Mutation ATG,GTG M372V NP_001269239.1
NM_054020.3 1311 Missense Mutation ATG,GTG M366V NP_473361.1
NM_172095.2 1311 Missense Mutation ATG,GTG M366V NP_742093.1
XM_017021904.1 1311 Missense Mutation ATG,GTG M366V XP_016877393.1

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