TLCD3B (TLC domain containing 3B)

2014-11-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
FAM57B,FP1188

Other Information

Locus ID:

NCBI: 83723
MIM: 615175
HGNC: 25295
Ensembl: ENSG00000149926

Variants:

dbSNP: 83723
ClinVar: 83723
TCGA: ENSG00000149926
COSMIC: TLCD3B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149926ENST00000279389Q71RH2
ENSG00000149926ENST00000380495Q71RH2
ENSG00000149926ENST00000380495F1T0F5
ENSG00000149926ENST00000561666H3BST4
ENSG00000149926ENST00000564806H3BUS2
ENSG00000149926ENST00000569508H3BUM7
ENSG00000149926ENST00000571269I3L180

References

Pubmed IDYearTitleCitations
330778922021Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.6
330778922021Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.6

Citation

Dessen P

TLCD3B (TLC domain containing 3B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63212/tlcd3b-(tlc-domain-containing-3b)