Product Details

SNP ID

rs55987292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:74675079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCGCTTCACAGCCACCAGCTTG[C/T]GGATCTTCTCAGAATTACAGCCTGG

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	1960	Missense Mutation	CAC,CGC	H213R	NP_001135969.1
NM_152649.3	1960	Missense Mutation	CAC,CGC	H421R	NP_689862.1
XM_005255834.3	1960	Missense Mutation	CAC,CGC	H421R	XP_005255891.1
XM_011522936.2	1960	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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