Product Details

SNP ID
rs143914335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:157442418 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCGTTCCAAGAAGATTTTTGGAAG[C/T]GTGCATCCAGTGAGACCAATGAGGC
Phenotype
MIM: 602492 MIM: 609594
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTX3 PubMed Links

Gene Details

Gene
PTX3
Gene Name
pentraxin 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002852.3 728 Silent Mutation AGC,AGT S195S NP_002843.2
Gene
VEPH1
Gene Name
ventricular zone expressed PH domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167911.1 728 Intron NP_001161383.1
NM_001167912.1 728 Intron NP_001161384.1
NM_001167915.1 728 Intron NP_001161387.1
NM_001167916.1 728 Intron NP_001161388.1
NM_001167917.1 728 Intron NP_001161389.1
NM_024621.2 728 Intron NP_078897.2
XM_011513134.2 728 Intron XP_011511436.1
XM_011513135.1 728 Intron XP_011511437.1

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