Product Details

SNP ID
rs199819275
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:73383816 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCTTCACCTTCCACTCCATGCGC[A/G]GCTCCGACGGGGTGGGAGAGCTCAG
Phenotype
MIM: 609729
Polymorphism
A/G, 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 2190 Missense Mutation CCG,CTG P615L NP_001290068.1
NM_001303140.1 2190 Missense Mutation CCG,CTG P574L NP_001290069.1
NM_001303141.1 2190 Missense Mutation CCG,CTG P639L NP_001290070.1
NM_001303142.1 2190 Missense Mutation CCG,CTG P634L NP_001290071.1
NM_015009.2 2190 Missense Mutation CCG,CTG P917L NP_055824.1
XM_017005942.1 2190 Missense Mutation CCG,CTG P888L XP_016861431.1

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