Product Details

SNP ID
rs200096858
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4777898 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCCGGGGCCAGGTTCACCCAGC[C/T]GGGCCCGCGGGGCAGCAGGTGGCTT
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 1240 Missense Mutation AGC,GGC S280G NP_001147930.1
NM_144605.4 1240 Missense Mutation AGC,GGC S326G NP_653206.2
XM_006720846.2 1240 Missense Mutation AGC,GGC S326G XP_006720909.1
XM_011522379.2 1240 Missense Mutation AGC,GGC S262G XP_011520681.1
XM_017022938.1 1240 Missense Mutation AGC,GGC S332G XP_016878427.1

View Full Product Details