Product Details

SNP ID

rs201482571

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:31216819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACATGCGCATGTCGCGCAGCACGGC[C/T]ACGACGAGCTCGGCTGCGTAGTCCT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152901.3	275	Silent Mutation	GTA,GTG	V70V	NP_690865.1

Gene

TRIM72

Gene Name

tripartite motif containing 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008274.3	275	Intron			NP_001008275.2
XM_017023254.1	275	Intron			XP_016878743.1

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