Product Details

SNP ID

rs200828874

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1486184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGGCCCAGCACGAGGGACCCTC[C/T]GGGGGGGATCTCATAGCCCTCCCTG

Phenotype

MIM: 613442 MIM: 611140

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PTX4 PubMed Links

Gene Details

Gene

PTX4

Gene Name

pentraxin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013658.1	1177	Missense Mutation	AGA,GGA	R393G	NP_001013680.1

Gene

TELO2

Gene Name

telomere maintenance 2

There are no transcripts associated with this gene.

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