Product Details

SNP ID
rs182825334
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5727272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTTGTGATTATCTCTCTAGGACC[A/G]CCTGTATTTTCATCCTACAACAACA
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_152784.3 484 Missense Mutation CAC,CGC H44R NP_689997.3
XM_011527885.2 484 Missense Mutation CAC,CGC H44R XP_011526187.1
XM_011527886.2 484 Missense Mutation CAC,CGC H44R XP_011526188.1
XM_011527887.2 484 Missense Mutation CAC,CGC H44R XP_011526189.1
XM_011527888.2 484 Missense Mutation CAC,CGC H44R XP_011526190.1
XM_011527889.2 484 Missense Mutation CAC,CGC H44R XP_011526191.1
XM_011527890.2 484 Missense Mutation CAC,CGC H44R XP_011526192.1
XM_011527891.1 484 Intron XP_011526193.1
XM_011527892.1 484 Intron XP_011526194.1
XM_017026564.1 484 Missense Mutation CAC,CGC H44R XP_016882053.1
XM_017026565.1 484 UTR 5 XP_016882054.1
XM_017026566.1 484 Missense Mutation CAC,CGC H44R XP_016882055.1
Gene
LONP1
Gene Name
lon peptidase 1, mitochondrial
There are no transcripts associated with this gene.

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