Product Details

SNP ID: rs57802288
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:52315936 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGCAGGCGCCTGTAGGTGGCGATCT[T/C]GATATCCAGGCCTAGCTTGGAGTTC
Phenotype: MIM: 602765 MIM: 601928
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: KRT83 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002282.3	1282	Missense Mutation	AAG,GAG	K407E	NP_002273.3

There are no transcripts associated with this gene.