Product Details

SNP ID
rs147249779
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:30635329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTATGGAGTCCTGGGCGGTGGCTA[A/T]GGCTGTGGCTGTGGTTATGGCCATG
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
KRTAP20-2 PubMed Links

Gene Details

Gene
KRTAP20-2
Gene Name
keratin associated protein 20-2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181616.1 66 Nonsense Mutation TAA,TAT *22Y NP_853647.1
Gene
KRTAP20-3
Gene Name
keratin associated protein 20-3
There are no transcripts associated with this gene.

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