Product Details

SNP ID
rs200453575
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:1584578 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACCCGCAGCCTCCCTTAGACCC[C/T]GCGCAAGAGCCACAACTGGAACAGG
Phenotype
MIM: 148022
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRTAP5-1 PubMed Links

Gene Details

Gene
KRTAP5-1
Gene Name
keratin associated protein 5-1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005922.1 706 Silent Mutation GCA,GCG A224A NP_001005922.1
Gene
KRTAP5-AS1
Gene Name
KRTAP5-1/KRTAP5-2 antisense RNA 1
There are no transcripts associated with this gene.

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