Product Details

SNP ID
rs202130919
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:176216901 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCAGAAGCTCTGTATTTTTGGCA[C/T]TGATATCTGCTCCAAATTCTAGCAG
Phenotype
MIM: 615050
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASB5 PubMed Links

Gene Details

Gene
ASB5
Gene Name
ankyrin repeat and SOCS box containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080874.3 1584 Missense Mutation AAT,AGT N260S NP_543150.1
XM_005262759.1 1584 Missense Mutation AAT,AGT N260S XP_005262816.1
XM_011531616.2 1584 Missense Mutation AAT,AGT N215S XP_011529918.1
XM_011531617.2 1584 Missense Mutation AAT,AGT N207S XP_011529919.1

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