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: 166,845,670-166,984,523 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 7 transcripts (splice variants), 16 paralogues and is associated with 11 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000423058.2 | SCN1A-201 | 8133 | 2009aa | ENSP00000407030.2 | Protein coding | F8T7W7 P35498 | NM_001202435.1 | GENCODE basic, | |
ENST00000303395.4 | SCN1A-001 | 8112 | 2009aa | ENSP00000303540.4 | Protein coding | CCDS54413 | F8T7W7 P35498 | - | GENCODE basic, |
ENST00000375405.3 | SCN1A-002 | 8097 | 1998aa | ENSP00000364554.3 | Protein coding | CCDS33316 | F8T7W7 P35498 | NM_006920.4 | GENCODE basic, |
ENST00000409050.1 | SCN1A-003 | 5946 | 1981aa | ENSP00000386312.1 | Protein coding | CCDS54414 | F8T7W7 P35498 | - | GENCODE basic, |
ENST00000507401.1 | SCN1A-007 | 704 | No protein | - | Retained intron | - | - | - | |
ENST00000473295.2 | SCN1A-005 | 544 | No protein | - | Retained intron | - | - | - | |
ENST00000491429.1 | SCN1A-004 | 542 | No protein | - | Retained intron | - | - | - |