Product Details

SNP ID

rs142198037

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41684809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCGGGGTAGCCCGGGGGACCCTC[A/G]TCCTCCCTGCCCCCAAAGCTCAGGC

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	1166	Silent Mutation	GAC,GAT	D421D	NP_001161299.2
NM_001271943.1	1166	Silent Mutation	GAC,GAT	D322D	NP_001258872.1
NM_001271944.1	1166	Silent Mutation	GAC,GAT	D407D	NP_001258873.1
NM_001271945.1	1166	Silent Mutation	GAC,GAT	D407D	NP_001258874.1
NM_007162.2	1166	Silent Mutation	GAC,GAT	D407D	NP_009093.1
XM_005249411.1	1166	Silent Mutation	GAC,GAT	D407D	XP_005249468.1
XM_005249412.1	1166	Silent Mutation	GAC,GAT	D407D	XP_005249469.1
XM_006715212.3	1166	Silent Mutation	GAC,GAT	D407D	XP_006715275.1
XM_006715213.2	1166	Silent Mutation	GAC,GAT	D407D	XP_006715276.1
XM_011514915.1	1166	Silent Mutation	GAC,GAT	D407D	XP_011513217.1
XM_011514916.2	1166	Silent Mutation	GAC,GAT	D407D	XP_011513218.1

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