Product Details

SNP ID
rs191362962
Assay Type
Functionally tested
NCBI dbSNP Submissions
10
Location
Chr.1:145688000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGCTTGGACAGTTTACATTCTC[G/A]GGGGTTGAAGGTGGAGGTCATTTCT
Phenotype
MIM: 603831
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
PDZK1 PubMed Links

Gene Details

Gene
PDZK1
Gene Name
PDZ domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201325.1 215 Silent Mutation AGA,CGA R8R NP_001188254.1
NM_001201326.1 215 Silent Mutation AGA,CGA R8R NP_001188255.1
NM_002614.4 215 Silent Mutation AGA,CGA R8R NP_002605.2
XM_011509616.2 215 Intron XP_011507918.1
XM_011509618.2 215 Missense Mutation CGA,GGA R8G XP_011507920.1
XM_011509619.2 215 Intron XP_011507921.2
XM_017001464.1 215 Intron XP_016856953.1
XM_017001465.1 215 Intron XP_016856954.1
XM_017001466.1 215 Intron XP_016856955.1
XM_017001467.1 215 UTR 5 XP_016856956.1

View Full Product Details