Product Details

SNP ID
rs200100787
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5724858 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTTTAATCTGATACAGGACGTTC[A/G]AGGGGTATGTGGCTCCATGCTTAAA
Phenotype
MIM: 605490
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CATSPERD PubMed Links

Gene Details

Gene
CATSPERD
Gene Name
cation channel sperm associated auxiliary subunit delta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152784.3 475 Missense Mutation CAA,CGA Q41R NP_689997.3
XM_011527885.2 475 Missense Mutation CAA,CGA Q41R XP_011526187.1
XM_011527886.2 475 Missense Mutation CAA,CGA Q41R XP_011526188.1
XM_011527887.2 475 Missense Mutation CAA,CGA Q41R XP_011526189.1
XM_011527888.2 475 Missense Mutation CAA,CGA Q41R XP_011526190.1
XM_011527889.2 475 Missense Mutation CAA,CGA Q41R XP_011526191.1
XM_011527890.2 475 Missense Mutation CAA,CGA Q41R XP_011526192.1
XM_011527891.1 475 Intron XP_011526193.1
XM_011527892.1 475 Intron XP_011526194.1
XM_017026564.1 475 Missense Mutation CAA,CGA Q41R XP_016882053.1
XM_017026565.1 475 Intron XP_016882054.1
XM_017026566.1 475 Missense Mutation CAA,CGA Q41R XP_016882055.1
Gene
LONP1
Gene Name
lon peptidase 1, mitochondrial
There are no transcripts associated with this gene.

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