Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 64835474-64835630 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
JAK1
Entrez Gene ID
3716
Gene Name
Janus kinase 1
Gene Aliases
JAK1A, JAK1B, JTK3
UniGene
Hs.207538
Gene Chromosome Location
Chr.1: 64833223-65067746 on Build GRCh38
Transcripts
NM_001320923.1 NM_001321852.1 NM_001321853.1 NM_001321854.1 NM_001321855.1 NM_001321856.1 NM_001321857.1 NM_002227.3 XM_017001212.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5705526 c.3290G>C p.G1097A Chr.1: 64835475-64835475 on Build GRCh38
426587 c.3268A>C p.K1090Q Chr.1: 64835497-64835497 on Build GRCh38
7182968 c.3289G>T p.G1097C Chr.1: 64835476-64835476 on Build GRCh38
1343902 c.3277G>T p.G1093C Chr.1: 64835488-64835488 on Build GRCh38
6959386 c.3259-1G>A p.? Chr.1: 64835507-64835507 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs2274945 Chr.1: 64835555-64835555 on Build GRCh38
rs531496824 Chr.1: 64835588-64835588 on Build GRCh38
rs765510200 Chr.1: 64835497-64835497 on Build GRCh38
rs372341991 Chr.1: 64835533-64835533 on Build GRCh38
rs767302285 Chr.1: 64835546-64835546 on Build GRCh38
rs751340879 Chr.1: 64835518-64835518 on Build GRCh38
rs943118540 Chr.1: 64835554-64835554 on Build GRCh38
rs779424415 Chr.1: 64835520-64835520 on Build GRCh38
rs761536790 Chr.1: 64835532-64835532 on Build GRCh38
rs368218410 Chr.1: 64835496-64835496 on Build GRCh38

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