Product Details

SNP ID
rs201590284
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:2229013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACCTGCCCGCCATCCAGCCGCCG[C/T]CGCCCGTGCTGCCCGGGCCCTTCTT
Phenotype
MIM: 164780
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SKI PubMed Links

Gene Details

Gene
SKI
Gene Name
SKI proto-oncogene
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003036.3 289 Missense Mutation CCG,TCG P83S NP_003027.1
XM_005244775.3 289 Missense Mutation CCG,TCG P83S XP_005244832.1
XM_005244776.4 289 Intron XP_005244833.1
XM_017002128.1 289 Intron XP_016857617.1

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