Product Details

SNP ID
rs149712123
Assay Type
Functionally tested
NCBI dbSNP Submissions
8
Location
Chr.1:27345396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGCTCTGCCCTCCCTCCCCATGG[C/T]GCATGGGCCAAAGCCTGAGACTGAA
Phenotype
MIM: 604468 MIM: 608042
Polymorphism
C/T, Transition 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_001193308.1 259 Missense Mutation GCG,GTG A21V NP_001180237.1
NM_032872.2 259 Missense Mutation GCG,GTG A21V NP_116261.1
XM_005246022.3 259 Missense Mutation GCG,GTG A53V XP_005246079.1
XM_006710990.1 259 Missense Mutation GCG,GTG A53V XP_006711053.1
XM_006710991.1 259 UTR 5 XP_006711054.1
Gene
TMEM222
Gene Name
transmembrane protein 222
There are no transcripts associated with this gene.

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