Product Details

SNP ID

rs1129739

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:64834649 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

GGAATTCCCAGCATTTCCTCATAAG[C/T]TGATAAACCTGTAAAAAGAAAGAAG

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	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001307852.1
NM_001321852.1	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001308781.1
NM_001321853.1	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001308782.1
NM_001321854.1	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001308783.1
NM_001321855.1	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001308784.1
NM_001321856.1	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_001308785.1
NM_001321857.1	3689	Silent Mutation	CAA,CAG	Q1125Q	NP_001308786.1
NM_002227.3	3689	Silent Mutation	CAA,CAG	Q1126Q	NP_002218.2
XM_017001212.1	3689	Silent Mutation	CAA,CAG	Q1125Q	XP_016856701.1

Gene

RAVER2

Gene Name

ribonucleoprotein, PTB binding 2

There are no transcripts associated with this gene.

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