Product Details

SNP ID

rs146720938

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:3243289 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAGATGTGGGATCTGGCTGTCACA[C/T]TGTAAAAGGAGATGCTTCCAACTCT

Phenotype

MIM: 608107 MIM: 603231

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MEFV PubMed Links

Gene Details

Gene

MEFV

Gene Name

Mediterranean fever

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000243.2	2376	Missense Mutation	AAT,AGT	N733S	NP_000234.1
NM_001198536.1	2376	UTR 3			NP_001185465.1
XM_017023236.1	2376	Missense Mutation	AAT,AGT	N732S	XP_016878725.1

Gene

ZNF200

Gene Name

zinc finger protein 200

There are no transcripts associated with this gene.

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