Product Details

SNP ID
rs147251579
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:27347827 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCAGGAGACCAGGCTCCAGGCCA[C/G]GACAGGGAGGCTGAGGCTGCTGTGA
Phenotype
MIM: 604468 MIM: 608042
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MAP3K6 PubMed Links

Gene Details

Gene
MAP3K6
Gene Name
mitogen-activated protein kinase kinase kinase 6
There are no transcripts associated with this gene.

Gene
SYTL1
Gene Name
synaptotagmin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193308.1 557 Silent Mutation CAC,CAG H120Q NP_001180237.1
NM_032872.2 557 Silent Mutation CAC,CAG H120Q NP_116261.1
XM_005246022.3 557 Silent Mutation CAC,CAG H152Q XP_005246079.1
XM_006710990.1 557 Missense Mutation CAC,CAG H152Q XP_006711053.1
XM_006710991.1 557 UTR 5 XP_006711054.1

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