Product Details

SNP ID

rs200813055

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41684885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGATGGTGGCTGGGTGGGCAGG[C/G]GCAGCGGGGCTTGCGGGGGCAGAGC

Phenotype

MIM: 600744

Polymorphism

C/G, Transversion 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	1090	Missense Mutation	CCC,CGC	P396R	NP_001161299.2
NM_001271943.1	1090	Missense Mutation	CCC,CGC	P297R	NP_001258872.1
NM_001271944.1	1090	Missense Mutation	CCC,CGC	P382R	NP_001258873.1
NM_001271945.1	1090	Missense Mutation	CCC,CGC	P382R	NP_001258874.1
NM_007162.2	1090	Missense Mutation	CCC,CGC	P382R	NP_009093.1
XM_005249411.1	1090	Missense Mutation	CCC,CGC	P382R	XP_005249468.1
XM_005249412.1	1090	Missense Mutation	CCC,CGC	P382R	XP_005249469.1
XM_006715212.3	1090	Missense Mutation	CCC,CGC	P382R	XP_006715275.1
XM_006715213.2	1090	Missense Mutation	CCC,CGC	P382R	XP_006715276.1
XM_011514915.1	1090	Missense Mutation	CCC,CGC	P382R	XP_011513217.1
XM_011514916.2	1090	Missense Mutation	CCC,CGC	P382R	XP_011513218.1

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