Product Details

SNP ID

rs199923357

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41684891 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGCTGGGTGGGCAGGGGCAGC[A/G]GGGCTTGCGGGGGCAGAGCTGGCAG

Phenotype

MIM: 600744

Polymorphism

A/G, 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	1084	Missense Mutation	CCG,CTG	P394L	NP_001161299.2
NM_001271943.1	1084	Missense Mutation	CCG,CTG	P295L	NP_001258872.1
NM_001271944.1	1084	Missense Mutation	CCG,CTG	P380L	NP_001258873.1
NM_001271945.1	1084	Missense Mutation	CCG,CTG	P380L	NP_001258874.1
NM_007162.2	1084	Missense Mutation	CCG,CTG	P380L	NP_009093.1
XM_005249411.1	1084	Missense Mutation	CCG,CTG	P380L	XP_005249468.1
XM_005249412.1	1084	Missense Mutation	CCG,CTG	P380L	XP_005249469.1
XM_006715212.3	1084	Missense Mutation	CCG,CTG	P380L	XP_006715275.1
XM_006715213.2	1084	Missense Mutation	CCG,CTG	P380L	XP_006715276.1
XM_011514915.1	1084	Missense Mutation	CCG,CTG	P380L	XP_011513217.1
XM_011514916.2	1084	Missense Mutation	CCG,CTG	P380L	XP_011513218.1

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