Product Details

SNP ID
rs201002745
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219444720 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGCGCCTGGAGCTTCGGGATGA[C/T]GGGGCCTTCAGCACCCCCACGGGTG
Phenotype
MIM: 615950
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPEG PubMed Links

Gene Details

Gene
SPEG
Gene Name
SPEG complex locus
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173476.1 189 Intron NP_001166947.1
NM_005876.4 189 Silent Mutation GAC,GAT D152D NP_005867.3
XM_005246237.2 189 Silent Mutation GAC,GAT D58D XP_005246294.1
XM_005246239.2 189 UTR 5 XP_005246296.1
XM_005246240.2 189 Intron XP_005246297.1
XM_005246241.1 189 Intron XP_005246298.1
XM_005246242.4 189 Intron XP_005246299.1
XM_006712189.3 189 Silent Mutation GAC,GAT D48D XP_006712252.1
XM_006712193.3 189 Intron XP_006712256.1
XM_011510479.2 189 Silent Mutation GAC,GAT D162D XP_011508781.1
XM_011510483.2 189 Silent Mutation GAC,GAT D68D XP_011508785.2
XM_017003157.1 189 Silent Mutation GAC,GAT D68D XP_016858646.1
XM_017003158.1 189 Intron XP_016858647.1
XM_017003159.1 189 Intron XP_016858648.1
XM_017003160.1 189 Intron XP_016858649.1
XM_017003161.1 189 Intron XP_016858650.1
XM_017003162.1 189 Intron XP_016858651.1

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