Product Details

SNP ID
rs150949055
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:169588490 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGAAGAGCGACTAAAAGCTGCAC[A/G]GTATGGTTTACAACTAGTAGAGAGT
Phenotype
MIM: 616401
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SPDL1 PubMed Links

Gene Details

Gene
SPDL1
Gene Name
spindle apparatus coiled-coil protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017785.4 248 Missense Mutation CAG,CGG Q25R NP_060255.3
XM_011534585.1 248 Missense Mutation CAG,CGG Q25R XP_011532887.1
XM_011534586.2 248 Missense Mutation CAG,CGG Q25R XP_011532888.1
XM_011534587.2 248 Missense Mutation CAG,CGG Q25R XP_011532889.1
XM_011534588.2 248 Missense Mutation CAG,CGG Q25R XP_011532890.1
XM_011534589.2 248 Missense Mutation CAG,CGG Q25R XP_011532891.1
XM_011534590.2 248 Intron XP_011532892.1
XM_017009601.1 248 Missense Mutation CAG,CGG Q25R XP_016865090.1
XM_017009602.1 248 Intron XP_016865091.1

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