Product Details

SNP ID

rs201165184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55896114 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAGCAGTTGTCAGATTGCATTTC[A/G]CCAACCTAGGGGCGGGTGGGAAGAA

Phenotype

MIM: 609660

Polymorphism

A/G, Transition 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	2988	Missense Mutation	GCG,GTG	A988V	NP_001307986.1
NM_176810.2	2988	Missense Mutation	GCG,GTG	A988V	NP_789780.2

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