Product Details

SNP ID

rs192864844

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:7089917 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGACCGAGACGGCTACGGAGGTC[A/G]CGACCGTGACTACGGGGATCATCTG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_176822.3	984	Intron			NP_789792.1
XM_011520044.1	984	Intron			XP_011518346.1

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	984	Missense Mutation	CAC,CGC	H266R	NP_055284.3

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