Gene: SLC19A3 ENSG00000135917

Description

solute carrier family 19 (thiamine transporter), member 3 [Source:HGNC Symbol;Acc:16266]

Gene Synonyms

BBGD, THMD2, THTR2

Location

Chromosome 2: 228,549,926-228,582,728 reverse strand.

GRCh37:CM000664.1

About this gene

This gene has 9 transcripts (splice variants), 2 paralogues and is associated with 7 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000258403.3	SLC19A3-001	3105	496aa	ENSP00000258403.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS2468	B8ZZ39 C9IZI1 C9J4J5 Q9BZV2	NM_025243.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000541617.1	SLC19A3-201	1954	492aa	ENSP00000445519.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H2M8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000419059.1	SLC19A3-007	852	64aa	ENSP00000398349.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZ39 C9J4J5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000409287.1	SLC19A3-008	644	92aa	ENSP00000386298.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZ39 B8ZZW1 C9J4J5	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000409456.2	SLC19A3-004	594	54aa	ENSP00000387193.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZ39	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000456524.1	SLC19A3-006	563	132aa	ENSP00000399001.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B8ZZ39 C9IZI1 C9J4J5	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000425817.1	SLC19A3-002	3517	496aa	ENSP00000397393.1	Nonsense mediated decay	CCDS2468	B8ZZ39 C9IZI1 C9J4J5 Q9BZV2	-	-
ENST00000431622.1	SLC19A3-005	573	56aa	ENSP00000400627.1	Nonsense mediated decay		E7EM61	-	-
ENST00000477697.1	SLC19A3-003	771	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: SLC19A3 ENSG00000135917

Summary