Product Details

SNP ID
rs12912663
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:99105744 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCGCGCCGCCGCCACGCCTGCGGG[A/T]GGTGCACGACAGCTACGCACTGCTG
Phenotype
MIM: 606087
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SYNM PubMed Links

Gene Details

Gene
SYNM
Gene Name
synemin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015286.5 665 Missense Mutation GAG,GTG E182V NP_056101.5
NM_145728.2 665 Missense Mutation GAG,GTG E182V NP_663780.2
XM_017022035.1 665 Missense Mutation GAG,GTG E182V XP_016877524.1

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