Product Details

SNP ID
rs146959814
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:73383907 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTCCACGGCCGACTTCTGCTGGA[C/T]CAGCTGCATGTAGCTCTGGTAGTGC
Phenotype
MIM: 609729
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PDZRN3 PubMed Links

Gene Details

Gene
PDZRN3
Gene Name
PDZ domain containing ring finger 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303139.1 2099 Missense Mutation ATC,GTC I585V NP_001290068.1
NM_001303140.1 2099 Missense Mutation ATC,GTC I544V NP_001290069.1
NM_001303141.1 2099 Missense Mutation ATC,GTC I609V NP_001290070.1
NM_001303142.1 2099 Missense Mutation ATC,GTC I604V NP_001290071.1
NM_015009.2 2099 Missense Mutation ATC,GTC I887V NP_055824.1
XM_017005942.1 2099 Missense Mutation ATC,GTC I858V XP_016861431.1

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