Product Details

SNP ID
rs145475862
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:170360518 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGACTATGGAGAAGCACCAGTG[A/G]AAACTGATGGAGAGCATGTTAAGCG
Phenotype
MIM: 165340
Polymorphism
A/G, Transition 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_001145097.2 899 Missense Mutation AAA,GAA K63E NP_001138569.1
NM_001145098.2 899 Missense Mutation AAA,GAA K43E NP_001138570.1
NM_001248008.1 899 Missense Mutation AAA,GAA K63E NP_001234937.1
NM_005414.4 899 Missense Mutation AAA,GAA K63E NP_005405.2
XM_005247721.1 899 Missense Mutation AAA,GAA K63E XP_005247778.1
XM_006713735.1 899 Missense Mutation AAA,GAA K63E XP_006713798.1

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