Product Details

SNP ID
rs200709516
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4778086 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCCAGGCTCCCCACACCCTCAC[C/T]GGATAAGCAGGTCTCTCAGGAGAGG
Phenotype
MIM: 611562
Polymorphism
C/T, Transition 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 1139 Missense Mutation CAC,CGC H246R NP_001147930.1
NM_144605.4 1139 Missense Mutation CAC,CGC H292R NP_653206.2
XM_006720846.2 1139 Missense Mutation CAC,CGC H292R XP_006720909.1
XM_011522379.2 1139 Missense Mutation CAC,CGC H228R XP_011520681.1
XM_017022938.1 1139 Missense Mutation CAC,CGC H298R XP_016878427.1

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