Product Details

SNP ID
rs141131050
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:4779695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGGGGCCCCGCACTGACCTTCA[A/G]TGATGCCCCACTTGGTCTTCCGGCC
Phenotype
MIM: 611562
Polymorphism
A/G, 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 1082 Missense Mutation ACT,ATT T227I NP_001147930.1
NM_144605.4 1082 Missense Mutation ACT,ATT T273I NP_653206.2
XM_006720846.2 1082 Missense Mutation ACT,ATT T273I XP_006720909.1
XM_011522379.2 1082 Missense Mutation ACT,ATT T209I XP_011520681.1
XM_017022938.1 1082 Missense Mutation ACT,ATT T279I XP_016878427.1
Gene
SMIM22
Gene Name
small integral membrane protein 22
There are no transcripts associated with this gene.

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