Product Details

SNP ID

rs200915860

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:74675016 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGGCACTCATCAATGATCTCC[C/T]GCAGCTCTGAAGGGCAGTCTTCACC

Phenotype

MIM: 615153 MIM: 614151

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MLKL PubMed Links

Gene Details

Gene

MLKL

Gene Name

mixed lineage kinase domain-like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142497.2	2023	Missense Mutation	CAG,CGG	Q234R	NP_001135969.1
NM_152649.3	2023	Missense Mutation	CAG,CGG	Q442R	NP_689862.1
XM_005255834.3	2023	Missense Mutation	CAG,CGG	Q442R	XP_005255891.1
XM_011522936.2	2023	Intron			XP_011521238.1

Gene

RFWD3

Gene Name

ring finger and WD repeat domain 3

There are no transcripts associated with this gene.

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