SLC38A8 (solute carrier family 38 member 8)

2014-11-01  

Identity

HGNC
LOCATION
16q23.3
LOCUSID
ALIAS
FVH2

Other Information

Locus ID:

NCBI: 146167
MIM: 615585
HGNC: 32434
Ensembl: ENSG00000166558

Variants:

dbSNP: 146167
ClinVar: 146167
TCGA: ENSG00000166558
COSMIC: SLC38A8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166558ENST00000299709A6NNN8
ENSG00000166558ENST00000568178H3BUP5
ENSG00000166558ENST00000569816H3BP02

Expression (GTEx)

0
1
2

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
240458422014Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.14
242903792013Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.13
242892732013Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study.7

Citation

Dessen P

SLC38A8 (solute carrier family 38 member 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73428/slc38a8