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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Paralogues
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: SBDS ENSG00000126524

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Description

Shwachman-Bodian-Diamond syndrome [Source:HGNC Symbol;Acc:19440]

Gene Synonyms

CGI-97, FLJ10917, SDS, SWDS

Location

Chromosome 7: 66,452,664-66,460,588 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 4 transcripts (splice variants) and is associated with 40 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000246868.2	SBDS-001	1631	250aa	ENSP00000246868.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5537	Q9Y3A5	NM_016038.2	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000414306.1	SBDS-005	1531	86aa	ENSP00000394586.1	Nonsense mediated decay		F8WE72	-	-
ENST00000490953.1	SBDS-004	841	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000463579.1	SBDS-007	513	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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Summary

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