Transcript: ENST00000473295.2 SCN1A-005

Description

sodium channel, voltage-gated, type I, alpha subunit [Source:HGNC Symbol;Acc:10585]

Gene Synonyms

EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI

Location

Chromosome 2: 166,852,563-166,856,573 reverse strand.

About this transcript

This transcript has 3 exons, is associated with 1712 variant alleles and maps to 90 oligo probes.

Gene

This transcript is a product of gene ENSG00000144285.11 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000303395.4	SCN1A-001	8112	2009aa	ENSP00000303540.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54413	F8T7W7 P35498	-	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,
ENST00000423058.2	SCN1A-201	8133	2009aa	ENSP00000407030.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8T7W7 P35498	NM_001202435.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000375405.3	SCN1A-002	8097	1998aa	ENSP00000364554.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33316	F8T7W7 P35498	NM_006920.4	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000409050.1	SCN1A-003	5946	1981aa	ENSP00000386312.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS54414	F8T7W7 P35498	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000507401.1	SCN1A-007	704	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000473295.2	SCN1A-005	544	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000491429.1	SCN1A-004	542	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: 3, Coding exons: 0, Transcript length: 544 bps,

Version

ENST00000473295.2

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:	OTTHUMT00000333752 (version 2)

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Transcript: ENST00000473295.2 SCN1A-005

Summary