SCNN1A (Q18031402)

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protein-coding gene in the species Homo sapiens

BESC2
ENaCa
ENaCalpha
SCNEA
SCNN1
sodium channel epithelial 1 alpha subunit
LIDLS3
sodium channel epithelial 1 subunit alpha

Language	Label	Description	Also known as
English	SCNN1A	protein-coding gene in the species Homo sapiens	BESC2 ENaCa ENaCalpha SCNEA SCNN1 sodium channel epithelial 1 alpha subunit LIDLS3 sodium channel epithelial 1 subunit alpha

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000111319

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

Sodium channel epithelial 1 subunit alpha

1 reference

6 July 2017

UniProt protein ID

Amiloride-sensitive sodium channel subunit alpha

1 reference

UniProt protein ID

20 March 2016

language of work or name

genetic association

determination method

genome-wide association study

1 reference

https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_11981&ncbiId=6337

http://www.genome.gov/gwastudies/index.cfm?gene=SCNN1A

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

25 May 2020

autosomal recessive pseudohypoaldosteronism type 1

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000111319/Orphanet_171876

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 12

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

6346843

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

6456009

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

6377730

human chromosome 12

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

6486896

human chromosome 12

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

cytogenetic location

12p13.31

1 reference

15 May 2022

811

1 reference

15 May 2022

Gene Atlas image

PBB GE SCNN1A 215026 x at fs.png
732 × 530; 12 KB

0 references

PBB GE SCNN1A 203453 at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

811

1 reference

HomoloGene build68

811

right uterine tube

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

pancreatic ductal cell

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

minor salivary glands

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

left lobe of thyroid gland

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

palpebral conjunctiva

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

right lobe of thyroid gland

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

bronchial epithelial cell

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000111319

http://identifiers.org/ncbigene/6337

1 reference

Identifiers.org

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

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000111319

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

Ensembl transcript ID

ENST00000545605

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000228916

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000338748

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000360168

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000366131

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000396966

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000457871

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000536087

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000536176

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000536411

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000536788

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000538957

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000538979

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000539030

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000539953

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000540037

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000541249

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000542260

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000542436

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000542966

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000543585

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000543768

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

ENST00000544882

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000111319

0 references

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(4 entries)

bswiki SCNN1A
enwiki SCNN1A
jawiki SCNN1A
ukwiki SCNN1A

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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