Product Details

SNP ID
rs144196715
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:27357424 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCATCCGGGAAGGCAAACAGCGG[A/T]CTGTGCAGAAGCGCAGGCCCAAGGC
Phenotype
MIM: 604468 MIM: 608042
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
MAP3K6 PubMed Links

Gene Details

Gene
MAP3K6
Gene Name
mitogen-activated protein kinase kinase kinase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297609.1 3479 Missense Mutation AGA,AGT R1070S NP_001284538.1
NM_004672.4 3479 Missense Mutation AGA,AGT R1078S NP_004663.3
XM_017002771.1 3479 Missense Mutation AGA,AGT R659S XP_016858260.1
XM_017002772.1 3479 Intron XP_016858261.1
Gene
SYTL1
Gene Name
synaptotagmin like 1
There are no transcripts associated with this gene.

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