Transcript: ENST00000371265.4 BSND-001

Description

Bartter syndrome, infantile, with sensorineural deafness (Barttin) [Source:HGNC Symbol;Acc:16512]

Gene Synonyms

BART, DFNB73

Location

About this transcript

This transcript has 4 exons, is annotated with 6 domains and features, is associated with 5477 variant alleles and maps to 399 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371265.4	BSND-001	3472	320aa	ENSP00000360312.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS602	Q5VU50 Q8WZ55	NM_057176.2	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,

Summary

Statistics

Exons: 4, Coding exons: 4, Transcript length: 3,472 bps, Translation length: 320 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q8WZ55

CCDS

This transcript is a member of the Human CCDS set: CCDS602

Version

ENST00000371265.4

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000022213 (version 4)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.