Product Details

SNP ID
rs143407064
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:48137291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGATACTCCTTTGGAACAATCCCA[A/G]CGAGGCTGTTCAGTTCTCCCACCCA
Phenotype
MIM: 604969
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SKAP1 PubMed Links

Gene Details

Gene
SKAP1
Gene Name
src kinase associated phosphoprotein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001075099.1 1134 Missense Mutation NP_001068567.1
NM_003726.3 1134 Missense Mutation NP_003717.3
XM_005257755.3 1134 Missense Mutation XP_005257812.1
XM_017025257.1 1134 Missense Mutation XP_016880746.1
XM_017025258.1 1134 Missense Mutation XP_016880747.1
XM_017025259.1 1134 Missense Mutation XP_016880748.1
XM_017025260.1 1134 Missense Mutation XP_016880749.1

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