Product Details

SNP ID
rs200684354
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:52316063 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGCAGCGGGCATCACTGAGGGC[C/T]GCCTCACCCTGCTGCTCAGACTGGG
Phenotype
MIM: 602765 MIM: 601928
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT83 PubMed Links

Gene Details

Gene
KRT83
Gene Name
keratin 83
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002282.3 1155 Silent Mutation GCA,GCG A364A NP_002273.3
Gene
KRT86
Gene Name
keratin 86
There are no transcripts associated with this gene.

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