Gene: SMN1 ENSG00000172062

Description

survival of motor neuron 1, telomeric [Source:HGNC Symbol;Acc:11117]

Gene Synonyms

BCD541, C-BCD541, GEMIN1, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN1, SMN2, SMNC, SMNT, T-BCD541, TDRD16A, TDRD16B

Location

Chromosome 5: 70,220,768-70,249,769 forward strand.

GRCh37:CM000667.1

About this gene

This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000380707.4	SMN1-001	1536	294aa	ENSP00000370083.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34181	Q16637 Q9UNT8	NM_000344.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000351205.4	SMN1-201	1531	262aa	ENSP00000305857.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34182	I3QJX9 Q16637 Q9UNT8	NM_022874.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506163.1	SMN1-007	1445	282aa	ENSP00000424926.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q16637 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000514951.1	SMN1-002	1308	227aa	ENSP00000423298.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DP61 I2E4S7 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000503079.2	SMN1-008	1219	262aa	ENSP00000428128.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34182	I3QJX9 Q16637 Q9UNT8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506239.2	SMN1-003	1550	294aa	ENSP00000422679.2	Nonsense mediated decay		E7EQZ4 Q9UNT8	-	-
ENST00000507905.2	SMN1-005	431	79aa	ENSP00000430657.1	Nonsense mediated decay		H0YBZ9	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000510679.1	SMN1-004	1045	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000513228.1	SMN1-009	499	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000518504.1	SMN1-010	453	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Recent locations

Gene: SMN1 ENSG00000172062

Summary