Product Details

SNP ID

rs140434276

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:3243302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCTGTCACATTGTAAAAGGAGA[C/T]GCTTCCAACTCTGTAGTCCACGAAG

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	2363	Missense Mutation	ATC,GTC	I729V	NP_000234.1
NM_001198536.1	2363	UTR 3			NP_001185465.1
XM_017023236.1	2363	Missense Mutation	ATC,GTC	I728V	XP_016878725.1

Gene

ZNF200

Gene Name

zinc finger protein 200

There are no transcripts associated with this gene.

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