SMN1 (Q18031604)

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protein-coding gene in the species Homo sapiens

BCD541
GEMIN1
SMNT
T-BCD541
TDRD16A
survival of motor neuron 1, telomeric
survival motor neuron 1, telomeric
SMA1
SMA4
SMA@
SMA2
SMA
SMA3
SMN

Language	Label	Description	Also known as
English	SMN1	protein-coding gene in the species Homo sapiens	BCD541 GEMIN1 SMNT T-BCD541 TDRD16A survival of motor neuron 1, telomeric survival motor neuron 1, telomeric SMA1 SMA4 SMA@ SMA2 SMA SMA3 SMN

Statements

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

15 December 2016

Protein SMN1 PDB 1g5v.png
847 × 603; 164 KB

0 references

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

Survival of motor neuron 2, centromeric

1 reference

16 March 2017

UniProt protein ID

genetic association

juvenile spinal muscular atrophy

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172062/MONDO_0009672

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172062/Orphanet_83419

based on heuristic

inferred from an Open Targets association score over 0.7

intermediate spinal muscular atrophy

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172062/MONDO_0009673

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000172062/Orphanet_83418

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 5

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

70925030

human chromosome 5

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

69345350

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

70220768

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

70953942

human chromosome 5

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

69374349

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

70249769

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

cytogenetic location

5q13.2

1 reference

9 January 2022

292

1 reference

9 January 2022

1 reference

HomoloGene build68

292

1 reference

HomoloGene build68

292

1 reference

HomoloGene build68

292

ganglionic eminence

1

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

canal of the cervix

2

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

Achilles tendon

3

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

4

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

left uterine tube

5

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

6

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

7

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

8

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

anterior pituitary

9

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

10

1 reference

28 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000172062

http://identifiers.org/ncbigene/6606

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

1 reference

9 January 2022

Ensembl gene ID

ENSG00000275349

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENSG00000172062

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

Ensembl transcript ID

ENST00000380707

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000625245

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000627306

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000351205

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000628043

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000630432

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000503079

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000629122

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000506239

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000510679

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000513228

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000622739

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000514951

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000518504

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000622158

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000628353

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000610814

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000506163

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000626580

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000631131

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

ENST00000507905

1 reference

ensembl Release 105

Ensembl gene ID

ENSG00000172062

0 references

HGNC gene symbol

1 reference

9 January 2022

1 reference

9 January 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

WikiProjectMed ID

0 references

Sitelinks

Wikipedia(8 entries)

bswiki SMN1
dawiki SMN1
enwiki SMN1
eswiki SMN1
fawiki SMN1
glwiki SMN1
ttwiki SMN1
ukwiki SMN1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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