Product Details

SNP ID
rs199871554
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44697925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCTCTGCCGCCCCACATGTTCC[C/T]GCCTGGCCTGCTGAGGCCTCTGCTC
Phenotype
MIM: 612920
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRTAP10-12 PubMed Links

Gene Details

Gene
KRTAP10-12
Gene Name
keratin associated protein 10-12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198699.1 754 Missense Mutation CGC,TGC R242C NP_941972.1
Gene
TSPEAR
Gene Name
thrombospondin type laminin G domain and EAR repeats
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272037.1 754 Intron NP_001258966.1
NM_144991.2 754 Intron NP_659428.2

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