Description
survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118]
Gene Synonyms
BCD541, C-BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN1, SMN2, SMNC, SMNT, T-BCD541, TDRD16A, TDRD16B
Location
Chromosome 5: 69,345,350-69,374,349 forward strand.
GRCh37:CM000667.1
View alleles of this gene on alternative sequences
About this gene
This gene has 12 transcripts (splice variants), 1 gene allele, 1 paralogue and is associated with 8 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000380741.4 | SMN2-201 | 1573 | 282aa | ENSP00000370117.4 | Protein coding | CCDS54867 | Q16637 Q9UNT8 | NM_022877.2 | GENCODE basic, |
ENST00000380743.4 | SMN2-001 | 1536 | 294aa | ENSP00000370119.4 | Protein coding | CCDS4007 | Q16637 Q9UNT8 | NM_017411.3 | GENCODE basic, |
ENST00000380742.4 | SMN2-002 | 1388 | 262aa | ENSP00000370118.4 | Protein coding | CCDS4008 | I3QJX9 Q16637 Q9UNT8 | NM_022876.2 | GENCODE basic, |
ENST00000511812.1 | SMN2-004 | 867 | 227aa | ENSP00000424282.1 | Protein coding | B4DP61 I2E4S7 Q9UNT8 | - | GENCODE basic, | |
ENST00000506734.1 | SMN2-003 | 1550 | 294aa | ENSP00000424799.1 | Nonsense mediated decay | E7EQZ4 Q9UNT8 | - | - | |
ENST00000507458.2 | SMN2-005 | 1045 | 46aa | ENSP00000475331.1 | Nonsense mediated decay | - | - | CDS 5' incomplete, | |
ENST00000511873.2 | SMN2-012 | 431 | 79aa | ENSP00000475824.1 | Nonsense mediated decay | H0YBZ9 | - | CDS 5' incomplete, | |
ENST00000503678.1 | SMN2-006 | 761 | No protein | - | Retained intron | - | - | - | |
ENST00000505346.1 | SMN2-007 | 707 | No protein | - | Retained intron | - | - | - | |
ENST00000514914.1 | SMN2-013 | 662 | No protein | - | Retained intron | - | - | - | |
ENST00000509805.1 | SMN2-011 | 499 | No protein | - | Retained intron | - | - | - | |
ENST00000508258.1 | SMN2-014 | 211 | No protein | - | Retained intron | - | - | - |