Transcript: SBDS-001 OTTHUMT00000251746.2

Description

Shwachman-Bodian-Diamond syndrome

Location

About this transcript

This transcript has 5 exons and is annotated with 10 domains and features.

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: 5 Transcript length: 1,631 bps Translation length: 250 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS5537

Class

Known protein coding [Definition]

Author

This transcript was annotated by Havana

Version & date

Version 2, last modified on 28/02/2014 (Created on 11/11/2005)

Alternative symbols

AC073335.4-001

Other assemblies

This transcript maps to 66,987,677-66,995,601 in GRCh38 (Ensembl) coordinates.

Jump to this stable ID in Ensembl

Alternative transcripts

Ensembl transcript having exact match with Havana:	ENST00000246868

Curation Method

Manual annotation from Havana