Product Details

SNP ID
rs11541640
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:40389540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGAGTAAGCAAAAATCAGAGGAA[G/T]AGCTCAAGGACAAGAACCAGCTGTT
Phenotype
MIM: 614718
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
KNSTRN PubMed Links

Gene Details

Gene
KNSTRN
Gene Name
kinetochore localized astrin/SPAG5 binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142761.1 635 Nonsense Mutation GAG,TAG E174* NP_001136233.1
NM_001142762.1 635 Nonsense Mutation GAG,TAG E174* NP_001136234.1
NM_033286.3 635 Nonsense Mutation GAG,TAG E174* NP_150628.3

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