Product Details

SNP ID

rs17854944

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:7090043 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTTACGGAGGAGGAGGCCGCT[A/G]CGAGGAGTACCGGGGCTACTCACCC

Phenotype

MIM: 609665 MIM: 605444

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NLRP14 PubMed Links

Gene Details

Gene

NLRP14

Gene Name

NLR family pyrin domain containing 14

There are no transcripts associated with this gene.

Gene

RBMXL2

Gene Name

RNA binding motif protein, X-linked like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014469.4	1110	Missense Mutation	TAC,TGC	Y308C	NP_055284.3

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