Product Details

SNP ID
rs201399424
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:1495612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCCGGGTGCTGCAGGCGGTTGTGG[A/T]CTCTCTCCAAGGTGAGGCCCTGCCT
Phenotype
MIM: 613442 MIM: 611140
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PTX4 PubMed Links

Gene Details

Gene
PTX4
Gene Name
pentraxin 4
There are no transcripts associated with this gene.

Gene
TELO2
Gene Name
telomere maintenance 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016111.3 952 Missense Mutation GAC,GTC D201V NP_057195.2
XM_011522773.2 952 Missense Mutation GAC,GTC D201V XP_011521075.1
XM_011522774.2 952 Missense Mutation GAC,GTC D201V XP_011521076.1
XM_011522775.2 952 Missense Mutation GAC,GTC D201V XP_011521077.1
XM_011522776.2 952 Missense Mutation GAC,GTC D201V XP_011521078.1
XM_011522777.2 952 Missense Mutation GAC,GTC D201V XP_011521079.1
XM_011522778.2 952 Missense Mutation GAC,GTC D201V XP_011521080.1
XM_017023914.1 952 Missense Mutation GAC,GTC D201V XP_016879403.1

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