JAK2 (Entrez ID: 3717)

Entrez Gene ID	3717
Official Gene Symbol	JAK2 (GeneCards)
Full name	Janus kinase 2
Location	9p24.1
Other ids	Vega : OTTHUMG00000019490 MIM : 147796 HGNC : HGNC:6192 Ensembl : ENSG00000096968
Other names	JTK10, THCYT3
Summary	This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]

Variants

Found 15 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
1395	3717	JAK2	9	5077578	5077578	Aplastic Anaemia	HiSeq 2500
1396	3717	JAK2	9	5070017	5070017	Polycythaemia Vera	HiSeq 2500 Sequencing
12944	3717	JAK2	9	5156087	5156087	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten
12972	3717	JAK2	9	5082401	5082401	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000
13310	3717	JAK2	9	5121158	5121158	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000
13337	3717	JAK2	9	5014376	5014376	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000
13384	3717	JAK2	9	5103360	5103360	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000
13503	3717	JAK2	9	5083897	5083897	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000
30415	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30416	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30417	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30418	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30419	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30420	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP
30421	3717	JAK2	9	5073770	5073770	Asymptomatic	HiSeq 2500 Sequencing HiSeq X Ten HiSeq 2000 smMIP