Product Details

SNP ID
rs138110019
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:44681867 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGGGGTGCTGCAGGAGATGGGT[C/T]TGCAGAGGACGCTGGTGCAGGAAGG
Phenotype
MIM: 612920
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
KRTAP12-1 PubMed Links

Gene Details

Gene
KRTAP12-1
Gene Name
keratin associated protein 12-1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181686.1 297 Missense Mutation AAA,AGA K86R NP_859014.1
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_001272037.1 297 Intron NP_001258966.1
NM_144991.2 297 Intron NP_659428.2

View Full Product Details