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A2ML1

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gjen i llojit Homo sapiens

External resources

Microsoft Academic ID
2779669862
Ensembl transcript ID
ENST00000545850[1]
ENST00000299698[1]
ENST00000536789[1]
ENST00000537475[1]
ENST00000537546[1]
ENST00000539547[1]
ENST00000540049[1]
ENST00000541459[1]
ENST00000545692[1]
Entrez Gene ID
144568[2]
HGNC ID
23336[2]
UMLS CUI
C1825487[3]
RefSeq RNA ID
XR_931275[2]
NM_001282424[2]
NM_144670[2]
XM_011520566[2]
XM_011520567[2]
XM_017018869[2]
XM_017018870[2]
XR_001748594[2]
XM_047428387[4]
simboli i gjenit HGNC
A2ML1[2]
Freebase ID
/m/010x87b4
OMIM ID
610627[5]
Ensembl gene ID
ENSG00000166535[1]

instancë e

gjen[1]

nënklasë e

gjen kodues i proteinave[6]

found in taxon

Homo sapiens[1]

encodes

Alpha-2-macroglobulin like 1[7]
Alpha-2-macroglobulin-like protein 1[8]

genetic association

Noonan syndrome[9]
cardiofaciocutaneous syndrome[10]
Costello syndrome[11]

kromozom

human chromosome 12[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

strand orientation

forward strand[1]

genomic assembly: genome assembly GRCh38, Genome assembly GRCh37

genomic start

8975068[1]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 12

8822621[1]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 12

genomic end

8887001[1]

genomic assembly: genome assembly GRCh38

kromozom: human chromosome 12

9039597[1]

genomic assembly: Genome assembly GRCh37

kromozom: human chromosome 12

cytogenetic location

12p13.31[2]

HomoloGene ID

67167[2]

expressed in

gums[12]

rendor serik: 1

gingival epithelium[12]

rendor serik: 2

mucosa of pharynx[12]

rendor serik: 3

oral cavity[12]

rendor serik: 4

body of tongue[12]

rendor serik: 5

human penis[12]

rendor serik: 6

skin of abdomen[12]

rendor serik: 7

skin of leg[12]

rendor serik: 8

buccal mucosa cell[12]

rendor serik: 9

Vulva[12]

rendor serik: 10

përputhje e saktë

http://identifiers.org/ncbigene/144568[13]

Reference

  1. ^ a b c d e f g h i j k l m n o p q r ensembl Release 106, ENSG00000166535
  2. ^ a b c d e f g h i j k l m NCBI Gene, 15 maj 2022, 144568
  3. ^ UMLS 2023, 15 qershor 2023, inferred by common HGNC mappings on source and on Wikidata
  4. ^ NCBI Gene, 10 prill 2022, 144568
  5. ^ Online Mendelian Inheritance in Man, 19 gusht 2019
  6. ^ Ensembl Release 87, ENSG00000166535
  7. ^ UniProt, 6 korrik 2017, A8K2U0
  8. ^ H0YGG5, 21 mars 2016, anglisht, UniProt
  9. ^ ClinGen, 18 shtator 2019, https://search.clinicalgenome.org/kb/gene-validity/d910a9d8-516e-443d-acba-8d61f7574792--2018-06-07T14:23:53
  10. ^ ClinGen, 18 shtator 2019, https://search.clinicalgenome.org/kb/gene-validity/fc3c41d8-8497-489b-a350-c9e30016bc6a--2018-06-07T14:31:03
  11. ^ ClinGen, 1 tetor 2019, https://search.clinicalgenome.org/kb/gene-validity/d910a9d8-516e-443d-acba-8d61f7574792--2018-06-07T14:23:53
  12. ^ a b c d e f g h i j Bgee, 7 qershor 2024, https://www.bgee.org/gene/ENSG00000166535
  13. ^ Identifiers.org, http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069
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