Product Details

SNP ID

rs147956048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:1494318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCCTCAGAGGTTCGACTCGCCGTC[C/T]GGGAAGCCATTCATGCCCTCTCGTC

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

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	387	Missense Mutation	CGG,TGG	R13W	NP_057195.2
XM_011522773.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521075.1
XM_011522774.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521076.1
XM_011522775.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521077.1
XM_011522776.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521078.1
XM_011522777.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521079.1
XM_011522778.2	387	Missense Mutation	CGG,TGG	R13W	XP_011521080.1
XM_017023914.1	387	Missense Mutation	CGG,TGG	R13W	XP_016879403.1

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