Product Details

SNP ID

rs148214926

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31219307 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCAGGAGACAGTGCGTCAGTTC[C/T]GGGGGGCCGTGGGGGAGCAGCTGGG

Phenotype

MIM: 615700 MIM: 613288

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PYDC1 PubMed Links

Gene Details

Gene

PYDC1

Gene Name

pyrin domain containing 1

There are no transcripts associated with this gene.

Gene

TRIM72

Gene Name

tripartite motif containing 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008274.3	789	Missense Mutation	CGG,TGG	R169W	NP_001008275.2
XM_017023254.1	789	Missense Mutation	CGG,TGG	R25W	XP_016878743.1

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