Transcript: SBDS-007 OTTHUMT00000346558.1

Description

Shwachman-Bodian-Diamond syndrome

Location

About this transcript

This transcript has 3 exons.

Gene

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt
SBDS-001	OTTHUMT00000251746.2	1631	250aa	OTTHUMP00000159953	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS5537	A0A0S2Z5I7
SBDS-005	OTTHUMT00000346556.1	1531	86aa	OTTHUMP00000210990	Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay	-	F8WE72
SBDS-004	OTTHUMT00000346555.1	841	No protein	-	<p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron	-	-
SBDS-007	OTTHUMT00000346558.1	513	No protein	-	<p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron	-	-

Summary

Statistics

Exons: 3 Transcript length: 513 bps

Class

retained intron [Definition]

Author

This transcript was annotated by Havana

Version & date

Version 1, last modified on 28/02/2014 (Created on 03/02/2009)

Alternative symbols

AC073335.4-007

Other assemblies

This transcript maps to 66,991,137-66,994,366 in GRCh38 (Ensembl) coordinates.

Jump to this stable ID in Ensembl

Alternative transcripts

Ensembl transcript having exact match with Havana:	ENST00000463579

Curation Method

Manual annotation from Havana