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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541617.1	SLC19A3-201	1954	492aa	ENSP00000445519.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H2M8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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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Recent locations

Gene: SLC19A3 ENSG00000135917

Summary