Product Details

SNP ID
rs199655879
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4777816 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGTGGTCAGAACTCATCATCAGAA[A/T]CGTCATGGGCCCCCCTGCAGACCTT
Phenotype
MIM: 611562
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SEPT12 PubMed Links

Gene Details

Gene
SEPT12
Gene Name
septin 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001154458.2 1322 Missense Mutation GAT,GTT D307V NP_001147930.1
NM_144605.4 1322 Missense Mutation GAT,GTT D353V NP_653206.2
XM_006720846.2 1322 Missense Mutation GAT,GTT D353V XP_006720909.1
XM_011522379.2 1322 Missense Mutation GAT,GTT D289V XP_011520681.1
XM_017022938.1 1322 Missense Mutation GAT,GTT D359V XP_016878427.1

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