Transcript: ENST00000490953.1 SBDS-004

Description

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

Gene Synonyms

CGI-97, FLJ10917, SDS, SWDS

Location

About this transcript

This transcript has 4 exons, is associated with 2638 variant alleles and maps to 277 oligo probes.

Gene

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	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		-	-	-

Summary

Statistics

Exons: 4, Coding exons: 0, Transcript length: 841 bps,

Version

ENST00000490953.1

Type

Retained intron

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000346555 (version 1)