Product Details

SNP ID
rs148445284
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:170361012 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGATTACATTAACTGATGCACA[A/C]AGATTATGTAATGCTTTATTGCGGC
Phenotype
MIM: 165340
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SKIL PubMed Links

Gene Details

Gene
SKIL
Gene Name
SKI-like proto-oncogene
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145097.2 1393 Missense Mutation CAA,CAC Q227H NP_001138569.1
NM_001145098.2 1393 Missense Mutation CAA,CAC Q207H NP_001138570.1
NM_001248008.1 1393 Missense Mutation CAA,CAC Q227H NP_001234937.1
NM_005414.4 1393 Missense Mutation CAA,CAC Q227H NP_005405.2
XM_005247721.1 1393 Missense Mutation CAA,CAC Q227H XP_005247778.1
XM_006713735.1 1393 Missense Mutation CAA,CAC Q227H XP_006713798.1

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