Product Details

SNP ID
rs12060219
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:64837343 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGATGCACCTAGGGGAGTGCTGA[C/T]TGGTTATGTCGTTATGTGGTTACGT
Phenotype
MIM: 147795 MIM: 609953
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
JAK1 PubMed Links

Gene Details

Gene
JAK1
Gene Name
Janus kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320923.1 Intron NP_001307852.1
NM_001321852.1 Intron NP_001308781.1
NM_001321853.1 Intron NP_001308782.1
NM_001321854.1 Intron NP_001308783.1
NM_001321855.1 Intron NP_001308784.1
NM_001321856.1 Intron NP_001308785.1
NM_001321857.1 Intron NP_001308786.1
NM_002227.3 Intron NP_002218.2
XM_017001212.1 Intron XP_016856701.1
Gene
RAVER2
Gene Name
ribonucleoprotein, PTB binding 2
There are no transcripts associated with this gene.

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