Product Details

SNP ID
rs144109992
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:153804555 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAAGAGGAGGCCCAGCTGGTTGC[C/G]GTTCTCCAGGTGGCACTTGATCTCC
Phenotype
MIM: 300634 MIM: 300090
Polymorphism
C/G, Transversion 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 1395 Missense Mutation CGC,GGC R376G NP_001290441.1
NM_001303513.1 1395 Missense Mutation CGC,GGC R274G NP_001290442.1
NM_001303514.1 1395 Missense Mutation CGC,GGC R261G NP_001290443.1
NM_001303515.1 1395 Missense Mutation CGC,GGC R295G NP_001290444.1
NM_001303516.1 1395 Missense Mutation CGC,GGC R289G NP_001290445.1
NM_032512.3 1395 Missense Mutation CGC,GGC R370G NP_115901.2
Gene
SSR4
Gene Name
signal sequence receptor subunit 4
There are no transcripts associated with this gene.

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