Product Details

SNP ID

rs147753936

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55898830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACACAGTAGCTTCACTCCATCA[A/T]CCTGAAGATCATTTTCTCCCAAATC

Phenotype

MIM: 609660

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NLRP13 PubMed Links

Gene Details

Gene

NLRP13

Gene Name

NLR family pyrin domain containing 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321057.1	2922	Missense Mutation	GAT,GTT	D966V	NP_001307986.1
NM_176810.2	2922	Missense Mutation	GAT,GTT	D966V	NP_789780.2

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