Product Details

SNP ID

rs139597684

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1485973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTTCCAGGCAGGTGCAGTTGGCC[C/T]CCTGCACAAATCCGCCTGCTAGTGC

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	1388	Missense Mutation	GAG,GGG	E463G	NP_001013680.1

Gene

TELO2

Gene Name

telomere maintenance 2

There are no transcripts associated with this gene.

View Full Product Details