Product Details

SNP ID

rs202215923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41685059 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGTGGTAGGGAGGCCGTGCACT[C/T]GAGCCTGCATCTCCAGCTCCTGCAG

Phenotype

MIM: 600744

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TFEB PubMed Links

Gene Details

Gene

TFEB

Gene Name

transcription factor EB

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167827.2	916	Missense Mutation	CAA,CGA	Q338R	NP_001161299.2
NM_001271943.1	916	Missense Mutation	CAA,CGA	Q239R	NP_001258872.1
NM_001271944.1	916	Missense Mutation	CAA,CGA	Q324R	NP_001258873.1
NM_001271945.1	916	Missense Mutation	CAA,CGA	Q324R	NP_001258874.1
NM_007162.2	916	Missense Mutation	CAA,CGA	Q324R	NP_009093.1
XM_005249411.1	916	Missense Mutation	CAA,CGA	Q324R	XP_005249468.1
XM_005249412.1	916	Missense Mutation	CAA,CGA	Q324R	XP_005249469.1
XM_006715212.3	916	Missense Mutation	CAA,CGA	Q324R	XP_006715275.1
XM_006715213.2	916	Missense Mutation	CAA,CGA	Q324R	XP_006715276.1
XM_011514915.1	916	Missense Mutation	CAA,CGA	Q324R	XP_011513217.1
XM_011514916.2	916	Missense Mutation	CAA,CGA	Q324R	XP_011513218.1

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