Product Details

SNP ID

rs181478191

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:49742185 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGGCTCCTCAGTTACTTAGCCAA[C/T]GGCAGAGGCGGGAAGTGAGAGGAGT

Phenotype

MIM: 600748

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMBIM6 PubMed Links

Gene Details

Gene

TMBIM6

Gene Name

transmembrane BAX inhibitor motif containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098576.1	377	Missense Mutation	CGG,TGG	R17W	NP_001092046.1
NM_003217.2	377	Intron			NP_003208.2
XM_005269126.3	377	Missense Mutation	CGG,TGG	R17W	XP_005269183.1

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