Product Details

SNP ID
rs202053341
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:153804684 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGAGAGTCCATGCTGAAATGGA[A/G]GTCCCGGCTCTGCAGGGCGTCCCCT
Phenotype
MIM: 300634 MIM: 300090
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PDZD4 PubMed Links

Gene Details

Gene
PDZD4
Gene Name
PDZ domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303512.1 1266 Missense Mutation CTC,TTC L333F NP_001290441.1
NM_001303513.1 1266 Missense Mutation CTC,TTC L231F NP_001290442.1
NM_001303514.1 1266 Missense Mutation CTC,TTC L218F NP_001290443.1
NM_001303515.1 1266 Missense Mutation CTC,TTC L252F NP_001290444.1
NM_001303516.1 1266 Missense Mutation CTC,TTC L246F NP_001290445.1
NM_032512.3 1266 Missense Mutation CTC,TTC L327F NP_115901.2
Gene
SSR4
Gene Name
signal sequence receptor subunit 4
There are no transcripts associated with this gene.

View Full Product Details