Product Details

SNP ID
rs14802
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:64833317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGACACAGAGACCTTGGTGATGT[A/G]GGCTATGAACAAATTTAAATGGCAA
Phenotype
MIM: 147795 MIM: 609953
Polymorphism
A/G, 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 5021 UTR 3 NP_001307852.1
NM_001321852.1 5021 UTR 3 NP_001308781.1
NM_001321853.1 5021 UTR 3 NP_001308782.1
NM_001321854.1 5021 UTR 3 NP_001308783.1
NM_001321855.1 5021 UTR 3 NP_001308784.1
NM_001321856.1 5021 UTR 3 NP_001308785.1
NM_001321857.1 5021 UTR 3 NP_001308786.1
NM_002227.3 5021 UTR 3 NP_002218.2
XM_017001212.1 5021 UTR 3 XP_016856701.1
Gene
RAVER2
Gene Name
ribonucleoprotein, PTB binding 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018211.3 5021 Intron NP_060681.2
XM_006710738.3 5021 Intron XP_006710801.2
XM_011541706.2 5021 Intron XP_011540008.1

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